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Journal articles on the topic "Rps17"
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Kuramitsu, Madoka, Aiko Sato-Otsubo, Tomohiro Morio, Masatoshi Takagi, Tsutomu Toki, Kiminori Terui, RuNan Wang, et al. "Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia." Blood 119, no. 10 (March 8, 2012): 2376–84. http://dx.doi.org/10.1182/blood-2011-07-368662.
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Abstract Fifty percent of Diamond-Blackfan anemia (DBA) patients possess mutations in genes coding for ribosomal proteins (RPs). To identify new mutations, we investigated large deletions in the RP genes RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26. We developed an easy method based on quantitative-PCR in which the threshold cycle correlates to gene copy number. Using this approach, we were able to diagnose 7 of 27 Japanese patients (25.9%) possessing mutations that were not detected by sequencing. Among these large deletions, similar results were obtained with 6 of 7 patients screened with a single nucleotide polymorphism array. We found an extensive intragenic deletion in RPS19, including exons 1-3. We also found 1 proband with an RPL5 deletion, 1 patient with an RPL35A deletion, 3 with RPS17 deletions, and 1 with an RPS19 deletion. In particular, the large deletions in the RPL5 and RPS17 alleles are novel. All patients with a large deletion had a growth retardation phenotype. Our data suggest that large deletions in RP genes comprise a sizable fraction of DBA patients in Japan. In addition, our novel approach may become a useful tool for screening gene copy numbers of known DBA genes.
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Gazda, Hanna, Michael Landowski, Christopher Buros, Adrianna Vlachos, Colin A. Sieff, Peter E. Newburger, Edyta Niewiadomska, et al. "Array Comparative Genomic Hybridization of Ribosomal Protein Genes In Diamond-Blackfan Anemia Patients; Evidence for Three New DBA Genes, RPS8, RPS14 and RPL15, with Large Deletion or Duplication." Blood 116, no. 21 (November 19, 2010): 1007. http://dx.doi.org/10.1182/blood.v116.21.1007.1007.
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Abstract Abstract 1007 Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, usually presenting during infancy or in early childhood. Although anemia is the most prominent feature of DBA, the disease is also characterized by cancer predisposition, growth retardation and congenital malformations, in particular craniofacial, upper limb, heart and urinary system defects, which are present in ∼30-50% of patients. We completed our large scale sequencing of 80 ribosomal protein (RP) genes and found eight of them mutated in DBA. In total, together with three RP genes identified by others, there are 11 genes mutated in ∼54% of DBA patients; RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10, RPS26, RPL19 and RPL26. To search for moderate and large RP gene deletions and duplications we performed high resolution array comparative genomic hybridization on 80 DNA samples from DBA patients who did not have mutations in the 11 known RP genes. We found a deletion of exon 2 and 3 (4800 bp), deletion of the coding region, and duplication of exons 2 and 3 (488 bp) in RPS19 gene in three probands; three deletions of exons 1, 2 and 3 in RPS17 in three probands (2920 bp, 2886 bp and 3018 bp); and deletion of exons 1, 2 and 3 of the RPS26 gene. We also identified two deletions and a duplication in three RP genes previously not found mutated in DBA; RPS8 duplication of exon 3 (764 bp), RPS14 deletion of exons 2, 3, 4 and 5 (2568 bp) and RPS15 deletion of exon 4 (1995 bp). The deletions and duplications are being confirmed by multiplex PCRs. Interestingly, RPS14 was previously identified as a 5q- syndrome gene demonstrating that abnormality of this protein can cause both DBA and 5q- syndrome. These data bring to 14 the total number of RP genes mutated in DBA. Disclosures: No relevant conflicts of interest to declare.
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Kuramitsu, Madoka, Tomohiro Morio, Masatoshi Takagi, Tsutomu Toki, Kiminori Terui, RuNan Wang, Atsuko Masumi, et al. "New Determination Method for Extensive Gene Deletions In Diamond–Blackfan Anemia." Blood 116, no. 21 (November 19, 2010): 4231. http://dx.doi.org/10.1182/blood.v116.21.4231.4231.
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Abstract Abstract 4231 Introduction: Fifty percent of Diamond–Blackfan anemia (DBA) patients possess mutations in ribosomal protein genes. Although several ribosomal protein genes, RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26, have been reported to be mutated in some DBA patients, including point mutations, nonsense mutations, deletions, splice site mutations, and translocations, other DBA patients appear to have intact ribosomal protein genes. To identify new mutations in ribosomal protein genes from a different aspect, we focused on extensive deletions in these genes, such as mutations involving loss of a whole allele. In this study, we applied quantitative genomic PCR, and successfully developed a convenient method for detecting extensive deletions designated the “DBA gene copy number assay”. Methods: DBA patients should have an intact allele and a mutated allele for the responsible ribosomal protein gene, meaning that they will have an abnormal karyotype (gene copy number of N) if they have an extensive deletion. We attempted to clarify the copy numbers of ribosomal protein genes by the difference in a 1-cycle delay of threshold in a quantitative PCR (q-PCR) assay. To detect extensive deletions, at least 2 sets of gene-specific primers for each DBA responsible gene (RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26) were prepared. Appropriate primers to fit the setting that the threshold cycle (Ct) of the q-PCR should occur within 1 cycle of the Ct scores of other primer sets were selected. After validation, we identified 6, 3, 4, 3, 3, 6, 9, 3, and 2 specific primer sets for RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26, respectively. By simply looking at the q-PCR amplification curves by eye, we were easily able to judge the copy numbers of 2N (normal) or N (abnormal) for the ribosomal protein genes. Results: We performed the DBA gene copy number assay for 14 randomly selected undiagnosed patients from the Japanese DBA genomic resource at the University of Hirosaki, who had no mutations by genomic sequencing analyses. For each case, all the DBA responsible genes were confirmed using the diagnostic primers. The results of the DBA gene copy number assays revealed that 5 of the 14 probands (36%) had an extensive deletion in one of the DBA responsible genes. As an interesting case among the 5 positive cases, we confirmed an extensive deletion in the RPS19 gene. The Ct scores for 4 of the 9 primer sets for RPS19 demonstrated a 1-cycle delay, while the scores for the other 5 primer sets were normal. By genomic PCR amplification analyses, we identified a deletion from nt. -1400 to +5757 (7157 nucleotides) in the RPS19 gene. The deleted region included the promoter region, and exons 1, 2, and 3 of the RPS19 gene. The remaining 4 cases were 1 proband with an RPL5 deletion, 1 with an RPL35A deletion and 2 with RPS17 deletions. In particular, the extensive deletions in the RPL5 and RPS17 alleles are the first such cases reported. Discussion: Since it has been difficult to address the loss of a whole allele in DBA, such mutations have not been precisely examined within the DBA responsible genes. Our data suggest that extensive deletions in ribosomal protein genes comprise a significant proportion of DBA cases in Japan. Our novel method could become a useful tool for screening the gene copy numbers of ribosomal protein genes, and for identifying new pathological mutations. Disclosures: No relevant conflicts of interest to declare.
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Gazda, Hanna T., Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Francoise O’Donohue, Hal Schneider, Natasha Darras, et al. "Identification of New Rare Sequence Changes in RP Genes in Diamond-Blackfan Anemia and Association of the RPL5 and RPL11 Mutations with Craniofacial and Thumb Malformations." Blood 112, no. 11 (November 16, 2008): 39. http://dx.doi.org/10.1182/blood.v112.11.39.39.
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Abstract Diamond-Blackfan anemia (DBA), a congenital bone marrow failure syndrome, is characterized by red blood cell aplasia, macrocytic anemia, clinical heterogeneity, and increased risk of malignancy. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retardation and congenital anomalies, present in ~30–47% of patients. The disease is associated with mutations in six ribosomal protein (RP) genes, S19, S24, S17, L35A, L5, and L11, in about 40–45% of patients. To continue our large scale screen of RP genes in a DBA population, we sequenced 12 RP genes, S15, L36, L31, L37A, S7, S27A, S14, S23, L3, L23, S17, and L27A in our DBA patient cohort of 200 families. We identified the second known mutation in RPS17 and possible pathogenic single mutations in four more RP genes, S7, L36, S15, and S27A. These are a donor splice site mutation (intron 2) in RPS7, a deletion of two nucleotides causing frameshift in RPS17 and RPL36, and two missense changes in RPS15 and RPS27A. Northern blot analysis demonstrated that lymphoblastoid cells from the patient with RPS7 mutation displayed higher levels of 45S and 30S pre-rRNAs compared to normal cells, similar to results in HeLa cells with siRNA-based knock-down of RPS7. There is a strong defect in 5′-ETS processing, resulting in accumulation of 45S and 30S pre-rRNAs, and a strong drop of levels of the 41S, 21S and 18S-E intermediates, whereas the amount of precursors to the large ribosomal subunit RNAs were unchanged. These results suggest that mutation of RPS7 in this DBA patient directly affects maturation of pre-rRNA. In addition, review of available medical data of 20 patients with mutations in RPL5 revealed that majority of them (14/20) have physical malformations including craniofacial, thumb and heart anomalies. Similarly, 12/18 patients with RPL11 mutations presented with physical malformations, while among 76 reported DBA patients with RPS19 mutations, only 35 (46%) had physical abnormalities. Remarkably, 9 of 14 patients with RPL5 mutations and physical abnormalities have cleft lip/ palate or cleft soft palate, isolated or in combination with other facial malformations and/or with other physical abnormalities such as heart or thumb anomalies. In contrast, none of 12 patients with RPL11 mutations and malformations have craniofacial abnormalities (p=0.007, Fisher’s exact test [FET]). Moreover, none of the 35 reported patients with RPS19 mutations and malformations presented with cleft lip and/or palate (p=9.745×10−7for RPL5 vs RPS19, FET). We conclude craniofacial clefting is associated with mutations in RPL5. In addition, 8/20 patients with mutated RPL5 and 8/18 patients with mutated RPL11 have thumb abnormalities, compared to only 9% of patients with RPS19 mutations. Moreover, congenital heart defects were found more often among patients with RPL5 mutations (5/20) compared with RPL11 (3/18) and RPS19 (4/76) (p=0.017 for RPL5 vs RPS19, FET). Strikingly, the majority (11/20) of patients with RPL5 mutations presented with multiple, severe abnormalities, including craniofacial, heart and/or thumb malformations. In contrast, patients with RPL11 and RPS19 mutations who presented with multiple physical abnormalities were uncommon, three patients out of 18, and 16 out of 76, respectively (p=0.02 for RPL5 vs RPL11 and p=0.0047 for RPL5 vs RPS19, FET). In summary, we identified single mutations in four genes as well as the second mutation in RPS17, suggesting that sequence changes in RPS7, RPS17, RPL36, RPS15, and RPS27A are rare events in DBA. Mutations in RPL5 are associated with multiple physical abnormalities including craniofacial, thumbs and heart anomalies, while thumb malformations are predominantly present in patients carrying mutations in RPL11.
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Moetter, Jessica, Mutlu Kartal, Joerg Meerpohl, Alexandra Fischer, Thorsten Simon, Sandra Urbaniak, Shinsuke Hirabayashi, et al. "Analysis of Ribosomal Protein Genes Associated with Diamond Blackfan Anemia (DBA) In German DBA Patients and Their Relatives." Blood 118, no. 21 (November 18, 2011): 729. http://dx.doi.org/10.1182/blood.v118.21.729.729.
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Abstract Abstract 729 On behalf of the German DBA registry. The first two authors contributed equally. Mutations of ribosomal protein (RP) genes cause diamond blackfan anemia (DBA), a congenital bone marrow failure syndrome characterized by erythroid failure associated with diverse malformations of multiple organ systems. Familial dominant inheritance has been established in at least one third of all cases. Some affected family members present only with history of transient anemia during childhood without additonal clinical abnormalities. Laboratory parameters supporting the diagnosis of DBA and pointing towards a non-penetrant carrier are macrocytosis, elevated hemoglobin F (HbF) and adenosine deaminase (ADA). The presence of a more severe disease phenotype in DBA offsprings affected by the disease raised the question of potential genetic anticipation. However, the insufficient longitudinal datasets, the non-prospective nature of investigations and other complex issues such as fecundity bias make it difficult to evaluate this problem in DBA patients. The purpose of the current study was to investigate the incidence of mutations in ribosomal protein genes in family members of DBA patients, irrespective of family history, specific symptoms or laboratory parameters. Based on the results from the ongoing DBA re-sequencing study we determined the mutational status of German DBA patients for the following 12 RP genes: RPS7, RPS10, RPS17, RPS19, RPS24, RPS26, RPL5, RPL9, RPL11, RPL19, RPL26, RPL35a. Out of 179 index patients with DBA, 94 patients carried an exclusive mutation or deletion of the following 9 genes: RPS19, n=46 (25,7%); RPL5, n=15 (8,4%); RPS26, n=12 (6,7%); RPL11, n=8(4,5%), RPL35a, n=6 (3,4%), RPS17, n=3 (1,7%), RPS24, n=2 (1,1%), RPS10, n=1 (0,6%), RPS7, n=1 (0,6%). In two patients, large genomic deletions were discovered using Affymetrix 6.0 SNP-array karyotyping, which encompass RPL5 and both copies of RPS17, respectively. No aberrations were found in RPL9, RPL19 and RPL26. A total of 85 patients (47%) were negative for all 12 tested genes. In the next step, RP genes with nonsynonymous changes identified in index patients were interrogated in patients` relatives. The investigation of parent-offspring trios revealed de novo gene aberrations in 32/55 (58%) of families (RPS19, n=14; RPL5, n=8; RPS26, n=4; RPL11, n=3, RPL35a, n=2; RPS17, n=1). Maternal inheritance pattern was identified in a total of 17/55 families (RPS19, n=10; RPS24, n=2; RPL5, n=2; RPS10, n=1; RPS26, n=1; RPL11, n=1), whereas a paternal transmission of the mutation was observed in 6/55 families (RPS19, n=3; RPL5, n=1; RPL35a, n=1 and RPS26, n=1). Among parents with identified mutation, 43% were silent carriers (presenting with normal phenotype and no history of anemia). Strikingly, 4/10 silent carriers with mutation (RPS10 Lys24Arg; RPS26 Arg87X; RPS19 Val30SerfsX46; RPS19 Arg94X) had normal HbF and ADA values. Taken together, spontaneous remission and silent clinical phenotype accounted for 87% of parental cases with identified RP mutations as opposed to 24% of offsprings with respective RP mutations. In summary, in German DBA cohort, RP genetic defects arise de novo at a frequency of 58% and are inherited over at least one generation in 42% of cases, with no significant clustering of RP gene mutations. Maternal inheritance pattern predominates at 74% of all inherited cases. The unequal cumulative frequency of spontaneous remission and silent phenotype among parental subjects versus offsprings with mutated RP genes might indicate increasing severity of the disease in each generation. This observation and the unexpectedly high frequency of silent carriers with normal HbF and ADA values warrants further studies with a large number of longitudinal datasets and known RP gene status. Disclosures: No relevant conflicts of interest to declare.
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Pospisilova, Dagmar, Jana Cmejlova, Jan Stary, Zdena Cerna, Jiri Hak, Radek Cmejla, and Barbora Ludikova. "Phenotype / Genotype Correlations in Diamond-Blackfan Anaemia – An Update From the Czech National DBA Registry." Blood 118, no. 21 (November 18, 2011): 5269. http://dx.doi.org/10.1182/blood.v118.21.5269.5269.
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Abstract Abstract 5269 Introduction Diamond-Blackfan anaemia (DBA) is a rare congenital red cell aplasia that is also associated with various physical anomalies in 40% of patients. Haploinsufficiency of ribosomal proteins (RPs) production due to various mutations in RPs is believed to be the cause of DBA. However, the precise mechanism of erythroid failure and development of anomalies remains under debate. Here we report a summary of clinical and laboratory data from the Czech National DBA Registry. Patients and Methods The Czech DBA registry has been created in the period 1991–2011. All patients were examined by experienced haematologists and detailed history was obtained. The following analyses were done: bone marrow analysis, eADA levels and clonogenic assays as previously published. PCR and direct sequencing was used to identify mutations in the genes coding for the following 21 RPs: RPS2, RPS3, RPS3a, RPS10, RPS12, RPS13, RPS14, RPS16, RPS17, RPS19, RPS24, RPS25, RPS30, RPL5, RPL11, RPL13, RPL23, RPL26, RPL27, RPL35a and RPL36. Results The Czech DBA Registry currently comprises 39 patients (14 males and 25 females; 1:1.79 ratio) aged 6 months-53 years from 34 families. Seventeen (28.8 %) patients were born small for gestational age (SGA), which is significantly higher in comparison with the population of Czech healthy newborns (p>0,001). In 27 (69.2%) patients, one or more anomalies were found (thumb anomalies, high-arched palate, craniofacial dysmorphism, Klippel-Feil syndrome, Sprengel`s deformity, neck, heart and kidney anomalies, microcephaly, micropthalmia). Nineteen (48.7%) patients have short stature. Only 6 (15%) patients have neither anomalies nor short stature. Two patients (5.1%) have developed malignancy. The first one died at the age of 5 due to AML, the second patient with an RPL11 mutation developed non-Hodgkin lymphoma at the age of 36. eADA levels were increased in 16/18 (88.8%) of non-transfused patients. Eighteen (46.2%) patients are transfusion dependent, while 10 (24.6%) are in remission and 11(28.2%) are on steroid treatment. So far, 23 different heterozygous mutations in five different RPs – RPS17, RPS19, RPS26, RPL5, and RPL11 – have been identified in 28 patients (71.8%) from 23 families (67.6%). Most mutations were found in the RPS19 gene – 10 patients (25.6%) from 8 families (23.5%), followed by the RPL5 gene (8 patients (20.5%) from 6 families (17.6%)); the RPS26 gene (5 patients (12.8%) from 5 families (14.7%)); the RPL11 gene (4 patients (10.3%) from 3 families (8.8%)); and RPS17 (1 patient (2.6%) from 1 family (2.9%). We identified three new mutations in the RPS19 gene (c.58G>C, p.Ala20Pro; c.195C>G, p.Tyr65X; and c.356dupG, p.Gly120ArgfsX34), one new mutation in the RPS26 gene (c.6_9delAAAG, p.Lys4GlufsX40), and one familial mutation in the RPL11 gene (c.281T>G, p.Leu94X). The comparison of the group of patients with RPS19 mutations (n=10) with the group of patients with RPL5 and 11 mutations (n=12) showed two significant differences. Firstly, 11/12 (92%) patients with RPL5 or RPL11 mutations were born SGA, secondly, all patients with an RPL5 or RPL11 mutation have a thumb defect with one or more other anomalies, while in the RPS19-mutated group the frequency of both markers was lower (30%). RPL5 and RPL11 mutations seem to have more profound impact on fetal development than mutations in RPS19. Patients with an RPS26 mutation have no thumb anomalies, but they show other skeletal (ribs and neck) anomalies. Conclusions The incidence of DBA in the Czech Republic is calculated to be 8.1/1 million live births. We observed a higher frequency of associated anomalies (70%) than was previously reported. Mutations in RPs of the small ribosomal subunit were found in 14 families (60.9%), while 9 mutations in proteins of the large ribosomal subunit represented 39.1%, together amounting to 72% of resolved DBA cases in the Czech Republic. Four new mutations have not been described yet. We found significant genotype-phenotype correlations. National registries are therefore the important tool for better understanding of several aspects of the disease. The work was supported by grants 00023736 (RC, JC) and NT 11059 (DP) from the Ministry of Health, and MSM 6198959205 from the Ministry of Education, Czech Republic. Disclosures: No relevant conflicts of interest to declare.
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Slaminko, T. L., C. R. Bowen, and G. L. Hartman. "Multi-Year Evaluation of Commercial Soybean Cultivars for Resistance to Phytophthora sojae." Plant Disease 94, no. 3 (March 2010): 368–71. http://dx.doi.org/10.1094/pdis-94-3-0368.
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Phytophthora sojae causes damping-off, root rot, and stem rot of soybean, particularly in poorly drained soils. Soybean cultivar resistance is one of the primary methods to control this disease, with Rps1c, Rps1k, and Rps1a being the most commonly used genes. The Varietal Information Program for Soybeans (VIPS) at the University of Illinois evaluates soybean cultivars for resistance to a number of diseases including Phytophthora root rot (PRR). The objectives of this research were to evaluate PRR resistance among commercial cultivars or advanced lines, and to compare these results with the information on PRR resistance provided by the company that entered the cultivar in VIPS. Each year from 2004 to 2008, between 600 and 900 cultivars were evaluated for resistance to either race 17 or 26 of P. sojae using the hypocotyl inoculation method. P. sojae single resistance genes were reported in 1,808 or 51% of the entries based on company information. Of these, the most commonly reported resistance genes were Rps1c (50%), Rps1k (40%), and Rps1a (10%). To a much smaller degree, companies reported using Rps3a (0.3%), Rps1b (0.2%), and Rps7 (0.2%). For the duration of the 5-year testing period, almost half of the cultivars (46%) were entered in VIPS with no reported resistance genes, and only nine out of a total of 3,533 entries (less than 0.3%) reported a stacked combination of resistance genes. Agreement between company-reported genes and any resistance found in the VIPS PRR evaluation was highest for those cultivars claiming to have Rps1c (90%) and Rps1k (83%), followed by Rps1a (70%). On average, 54% of the cultivars submitted to VIPS each year were new, reflecting the rapid development and turnover of soybean cultivars provided by the soybean seed companies.
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Konno, Yuki, Tsutomu Toki, Satoru Tandai, Gang Xu, Kiminori Terui, Shouichi Ohga, Seiji Kojima, et al. "Mutations in Ribosomal Protein Genes of Diamond-Blackfan Anemia Patients in Japan." Blood 114, no. 22 (November 20, 2009): 3204. http://dx.doi.org/10.1182/blood.v114.22.3204.3204.
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Abstract Abstract 3204 Poster Board III-141 Diamond-Blackfan anemia (DBA) is an inherited congenital bone marrow failure syndrome, characterized by red blood cell aplasia, macrocytic anemia, and increased risk of malignancy. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retardation and congenital malformations, which occur in about 40% of patients. Approximately 90% of patients present during the first year of life or in early childhood. Recent studies have shown that the disease is associated with heterozygous mutations in the ribosomal protein (RP) genes RPS19, RPS24, and RPS17, encoding small ribosomal subunit proteins, and in RPL5, RPL11 and RPL35a, encoding large ribosomal subunit proteins, in about 50% of patients with DBA in Western countries. There have been no studies to determine the incidence of these mutations in Asian patients with DBA. In this study, 44 probands (46 patients) with DBA in Japan were screened for mutations of the 6 known DBA genes RPS19, RPS24, RPS17, RPL5, RPL11, and RPL35a, in addition to RPS14, which is implicated in the 5q- syndrome, a subtype of myelodysplastic syndrome characterized by a defect in erythroid differentiation. Mutations in RPS19, which have been found in 25% of patients in Western countries, were detected in 6 probands (13.6%). Missense mutations were noted in 5 of these probands, and a frameshift mutation caused by a single-nucleotide insertion was found in 1 case. Three of 7 patients had multiple malformations. Novel mutations in RPL5 were identified in 3 probands (6.8%). Insertion of 2 nucleotides was found in 1 case, affecting the reading frame. Two cases had point mutations, which resulted in a loss of the first initiation codon. All 3 patients with RPL5 mutations had multiple physical anomalies. Remarkably, 2 of 3 patients with RPL5 mutations had cleft palate, whereas no other DBA patients presented with cleft palate. Mutations in RPL11 were identified in 2 patients (4.5%). Deletion of 1 or 2 nucleotides was found in each case, leading to a shift in the reading frame. In contrast to previous reports on patients with RPL11 mutations, thumb anomalies were not seen. Deletion of 1 nucleotide in RPS17 was identified in 1 patient (2.3%), resulting in introduction of a premature stop codon. RPS17 mutations are rare and have been only reported in 2 patients with DBA. Anomalies were not seen in our patient. In summary, RP gene mutations were identified in 27.3% of DBA index cases in Japan. No mutations were detected in RPS14, RPS24 and RPL35a. In Japan, the frequency of mutations in the RP genes appears to be lower than in Western countries. Mutations in RPL5 are associated with multiple physical abnormalities, including cleft palate. Disclosures No relevant conflicts of interest to declare.
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Farrar, Jason E., Adrianna Vlachos, Eva Atsidaftos, Hannah Carlson-Donohoe, Thomas C. Markello, Robert J. Arceci, Steven R. Ellis, Jeffrey M. Lipton, and David M. Bodine. "Ribosomal protein gene deletions in Diamond-Blackfan anemia." Blood 118, no. 26 (December 22, 2011): 6943–51. http://dx.doi.org/10.1182/blood-2011-08-375170.
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Abstract Diamond-Blackfan anemia (DBA) is a congenital BM failure syndrome characterized by hypoproliferative anemia, associated physical abnormalities, and a predisposition to cancer. Perturbations of the ribosome appear to be critically important in DBA; alterations in 9 different ribosomal protein genes have been identified in multiple unrelated families, along with rarer abnormalities of additional ribosomal proteins. However, at present, only 50% to 60% of patients have an identifiable genetic lesion by ribosomal protein gene sequencing. Using genome-wide single-nucleotide polymorphism array to evaluate for regions of recurrent copy variation, we identified deletions at known DBA-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19, RPS17, RPS26, and RPL35A. No recurrent regions of copy variation at novel loci were identified. Because RPS17 is a duplicated gene with 4 copies in a diploid genome, we demonstrate haploinsufficient RPS17 expression and a small subunit ribosomal RNA processing abnormality in patients harboring RPS17 deletions. Finally, we report the novel identification of variable mosaic loss involving known DBA gene regions in 3 patients from 2 kindreds. These data suggest that ribosomal protein gene deletion is more common than previously suspected and should be considered a component of the initial genetic evaluation in cases of suspected DBA.
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Dorrance, A. E., H. Jia, and T. S. Abney. "Evaluation of Soybean Differentials for Their Interaction with Phytophthora sojae." Plant Health Progress 5, no. 1 (January 2004): 9. http://dx.doi.org/10.1094/php-2004-0309-01-rs.
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Soybean lines, each containing a different resistance gene (Rps), are used as differentials to characterize isolates of Phytophthora sojae as physiologic races. Surveys in different soybean production regions have used various sets of soybean differentials thought to carry the same Rps genes. In some instances, isolates of P. sojae have been reported to have different reactions when evaluated in labs using different sets of differentials that were believed to have the same Rps gene. The objective of this study was to compare the consistency of racial classification when three different sets of soybean differentials were challenged with a common set of five races of P. sojae from Ohio and Indiana. Three soybean differential sets (USDA Soybean Germplasm Collection, The Ohio State University, and USDA-ARS Purdue University) were challenged with P. sojae using the hypocotyl inoculation test at OSU and USDA-ARS Purdue. Isolates of races 1, 3, 4, 7, and 25 from Ohio and Indiana had the same reaction on all three sets of soybean differentials for Rps1b, Rps1c, Rps1k, Rps3a, Rps3b, Rps3c, Rps6, Rps7, and on differentials Harlon, Harosoy 12xx, L59-731, and Union for Rps1a. L88-8470 used as a differential for Rps1a and L93-3312 used for Rps1d did not have the expected response. Isolates of races 4 and 25 from Ohio and Indiana responded differently on differentials with the Rps2 gene because this gene was not used previously to characterize races of P. sojae. A similar reaction occurred when differentials with Rps4 and Rps5 were inoculated with isolates of races 1 and 7, respectively. A standardized set of soybean differentials, corresponding to different maturity groups, for thirteen of the fourteen Rps genes is recommended. Accepted for publication 5 February 2004. Published 9 March 2004.
Dissertations / Theses on the topic "Rps17"
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Burlacu, Elena. "Probing ribosomal RNA structural rearrangements : a time lapse of ribosome assembly dynamics." Thesis, University of Edinburgh, 2016. http://hdl.handle.net/1842/17072.
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Ribosome synthesis is a very complex and energy consuming process in which pre-ribosomal RNA (pre-rRNA) processing and folding events, sequential binding of ribosomal proteins and the input of approximately 200 trans-acting ribosome assembly factors need to be tightly coordinated. In the yeast Saccharomyces cerevisiae, ribosome assembly starts in the nucleolus with the formation of a very large 90S-sized complex. This ~2.2MDa pre-ribosomal complex is subsequently processed into the 40S and 60S assembly intermediates (pre-40S and pre-60S), which subsequently mature largely independently. Although we have a fairly complete picture of the protein composition of these pre-ribosomes, still very little is known about the rRNA structural rearrangements that take place during the assembly of the 40S and 60S subunits and the role of the ribosome assembly factors in this process. To address this, the Granneman lab developed a method called ChemModSeq, which made it possible to generate nucleotide resolution maps of RNA flexibility in ribonucleoprotein complexes by combining SHAPE chemical probing, high-throughput sequencing and statistical modelling. By applying ChemModSeq to ribosome assembly intermediates, we were able to obtain nucleotide resolution insights into rRNA structural rearrangements during late (cytoplasmic) stages of 40S assembly and for the early (nucleolar) stages of 60S assembly. The results revealed structurally distinct cytoplasmic pre-40S particles in which rRNA restructuring events coincide with the hierarchical dissociation of assembly factors. These rearrangements are required to trigger stable incorporation of a number of ribosomal proteins and the completion of the head domain. Rps17, one of the ribosomal proteins that fully assembled into pre-40S complexes only at a later assembly stage, was further characterized. Surprisingly, my ChemModSeq analyses of nucleolar pre-60S complexes indicated that most of the rRNA folding steps take place at a very specific stage of maturation. One of the most striking observations was the stabilization of 5.8S pre-rRNA region, which coincided with the dissociation of the assembly factor Rrp5 and stable incorporation of a number of ribosomal proteins.
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Buender, Til. "Structural, biochemical and genetic dissection of RPS19 function." Thesis, University of Cambridge, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.609522.
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Thomas, Franck. "Expression des gènes rpl23, rpl2, rps19 et rps19' du génome chloroplastique d'épinard : identification des produits de quelques gènes de protéines ribosomiques." Grenoble 1, 1987. http://www.theses.fr/1987GRE10171.
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Le genome chloroplastique d'epinard est constitue d'une molecule d'adn circulaire (140 kbp) organisee en 4 regions: une sequence unique (lsc) et une petite sequence unique (ssc) separees par deux regions inversees repetees (ira et irb). L'expression des genes rp12, rps19 et rps19' est etudie. Les techniques de clonage et de cartographie a la nuclease s1 ont peris de montrer que le gene rps19' n'est pas exprime "in vivo" dans le chloroplaste en raison de la co-transcription sur l'autre brin des genes psba et trn h-gug. Les genes rp12 et rps19 codent respectivement pour les proteines ribosomiques chloroplastiques d'epinard l4 et s23 fortement homologues aux l2 et s19 d'e. Coli
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Binder, Ann-Kathrin [Verfasser]. "Die prognostische Bedeutung von RPS15 Mutationen in der chronischen lymphatischen Leukämie / Ann-Kathrin Binder." Ulm : Universität Ulm, 2021. http://d-nb.info/1239180381/34.
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HILDEBRAND, MARK MICHAEL. "MOLECULAR CHARACTERIZATION OF STREPTOMYCIN RESISTANCE AND THE TRANS-SPLICING RPS12 GENE IN NICOTIANA TABACUM CHLOROPLASTS." Diss., The University of Arizona, 1987. http://hdl.handle.net/10150/184063.
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Streptomycin resistance in E. coli ribosomes is conferred by alterations in the amino acid sequence of 30S ribosomal protein S12. The alterations result from point mutations at specific locations in the rps12 gene. A point mutation at a conserved nucleotide in the 16S rRNA gene, originally identified in Euglena gracilis chloroplasts, also confers streptomycin resistance to prokaryotic-like ribosomes. The Nicotiana tabacum mutant "SR1" possesses a chloroplast-linked streptomycin resistance allele. The results presented in this thesis identify a mutation in SR116S rRNA, which occurs at the same position as in streptomycin resistant Euglena mutants. The tobacco chloroplast rps12 gene has been characterized. This gene is expressed in a unique way; two separate transcripts encoding different portions of the gene undergo a bimolecular (trans-) splicing event during mRNA maturation. C-terminal rps12 exons 2 and 3 were identified in the inverted repeat regions of the tobacco chloroplast genome. Complementary DNA sequencing of mature rps12 mRNA allowed deduction of the remaining N-terminal (exon 1) sequence. Hybridizations with synthetic oligodeoxyribonucleotide primers complementary to the deduced RNA sequence located the coding region of exon 1 to be 29 kilobasepairs (kbp) downstream of the nearest copy, and 69 kbp away from, and on the opposite DNA strand of, the distal copy, of exons 2 and 3. Northern hybridization analysis and primer extension sequencing of cDNA of rps12 transcripts indicate that exon 1 and exons 2-3 are encoded on separate transcripts. Exon 1 and exons 2-3 are covalently ligated in mature rps12 mRNA. Therefore, the separate transcripts encoding exon 1 and exons 2-3 undergo a trans-splicing event during the maturation of rps12 mRNA. A complete cloned library of tobacco chloroplast DNA was obtained, consisting of overlapping Bam HI restriction fragments. Three new restriction maps of tobacco chloroplast DNA, for the enzymes Sma I, Kpn I, and Bam HI, were derived by two-dimensional gel analysis and a novel computer-aided mapping technique.
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Loc'h, Jérôme. "Etude structurale et fonctionnelle du sous-complexe Fap7-Rps14 impliqué dans la biogenèse du ribosome." Thesis, Paris 5, 2013. http://www.theses.fr/2013PA05P628.
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Plus de 200 facteurs pré-ribosomiques sont impliqués dans la maturation des ribosomes. La majorité de ces facteurs sont essentiels à la survie cellulaire, mais la fonction précise de la plupart d’entre eux demeure inconnue. Une des dernières étapes de maturation de la petite sous-unité du ribosome est le clivage du pré-ARNr 20S en ARNr 18S mature. Ce clivage est réalisé par l'endonucléase Nob1 et nécessite également la présence de la NTPase Fap7 ainsi que d’une pléthore d’autres facteurs pré-ribosomiques. La fonction de Fap7 est particulièrement intrigante, car l'homologue humain hCINAP possède une activité adénylate kinase, activité enzymatique qui n’est généralement pas liée à la biogenèse des particules ribonucléoprotéiques. En outre, la fonction de Fap7 est intimement liée à son interaction avec la protéine ribosomique Rps14. La partie C-terminale de Rps14 est essentielle pour le clivage au niveau du site D et est située à proximité de l’extrémité 3’ de l’ARNr 18S dans le ribosome mature. La suppression de cette protéine provoque le syndrome 5q qui est phénotypiquement proche de l’anémie de Diamond-Blackfan. Ces deux protéines interviennent également au niveau d’une voie de régulation de p53 qui est dérégulée dans de nombreux cancers. La combinaison d’études structurales par cristallographie aux rayons X, d’études enzymatiques sur des protéines recombinantes ainsi que des tests de maturation in vitro réalisés sur des pré-ribosomes purifiés, nous a permis de mieux appréhender la fonction de Fap7 au sein de la sous-unité pré-40S du ribosome. Nous avons également montré que l'interaction Fap7-Rps14 est impliquée dans un changement conformationnel majeur au cœur des pré-ribosomes et que cette réorganisation est nécessaire afin d'exposer le site D pour le clivage par l’endonucléase Nob1Over 200 pre-ribosomal factors involved in the maturation of ribosomes. Most of these factors are essential to cell survival, but the precise function of most of these factors remains elusive. One of the last steps of maturation of the small subunit of the ribosome is the cleavage of 20S pre-rRNA in 18S rRNA in the cytoplasm. This cleavage is carried out by the endonuclease Nob1 and also requires the presence of other factors such as the methyltransferase Dim1, and a plethora of NTPases including the Rio protein kinases, Prp43 and its cofactor Pfa1, the Ltv1 GTPase and the Fap7 NTPase. The function of Fap7 is especially intriguing since the human homologue bears Adenylate activity, an enzymatic activity not usually linked to ribonucleoprotein biogenesis. In addition, the function of Fap7 is intimately linked its interaction with the Rps14 ribosomal protein. The Rps14 C-terminal is essential of D site cleavage and is located in proximity to the 18S C-terminus in the mature ribosome. The deletion of this protein causes the 5q syndrome that is phenotypically close to Diamond Blackfan anemia. The link between the enzymatic activity of Fap7 and its role in ribosome biogenesis remains enigmatic. Using a combination of structural studies by X-ray crystallography, small angle X-ray scattering (SAXS) in solution, enzymatic studies on purified proteins, and in vitro D site cleavage reaction assays on purified pre-ribosomes, we were able to uncover the function of Fap7 within pre-40S ribosomes. We show that the Fap7/Rps14 interaction is involved in a major conformational change at the heart of the pre-ribosomes and that this structural rearrangement is necessary to expose the D-site for cleavage by the endonuclease Nob1
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Matsson, Hans. "Studies of the Ribosomal Protein S19 in Erythropoiesis." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2004. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4283.
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Dias, Sandra Martha Gomes. "Identificação, clonagem, estrutura e transcrição do loco genico mitocondrial nad3-rps12 de Coix lacryma-job L." [s.n.], 1999. http://repositorio.unicamp.br/jspui/handle/REPOSIP/316477.
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Orientador: Anete Pereira de SouzaDissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia
Made available in DSpace on 2018-07-25T01:37:09Z (GMT). No. of bitstreams: 1 Dias_SandraMarthaGomes_M.pdf: 7578353 bytes, checksum: 742e89735a431a4c7c34d2d5348b7bb4 (MD5) Previous issue date: 1999
Resumo: Com o objetivo de identificar e clonar um gene novo do DNA mitocondrial (DNAmt) de Coix lacryma-jobi L. (coix), utilizou-se a estratégia da hibridização heteróloga. Para tanto amplificou-se por PCR um fragmento correspondente a um quadro de leitura aberto ("open reading frame"-oif), denominado orf167, presente no DNAmt da briófita Marchantia polymorpha, e tido como um possível gene. Marcou-se radioativamente e utilizou-se esta sequência como sonda em hibridizações com o DNAmt de coix digerido com várias enzimas. Identificou-se um fragmento homólogo Bgl II/ Bgl II de 1,4 kb, o qual foi clonado em pBluescript. Elaborou-se o mapa de restrição deste fragmento e localizou-se nele a exata região de homologia com a orf167. A região de homologia estava presente em um fragmento interno de 0,5 kb Spe I / Pvu II. Este fragmento de 0,5 kb, homólogo à orf167, foi utilizado em hibridizações com o DNArmt de várias espécies de plantas superiores (alfafa, batata, coix, couve-flor, ervilha, milho e soja), verificando-se que o mesmo correspondia a uma seqüência altamente conservada. Este mesmo fragmento foi também hibridizado em membranas contendo o RNAmt tota de oix e de outras espécies de plantas superiores (milho e couve flor). Os resultados revelaram que ele é transcrito na mitocôndria das espécies analisadas. O fragmento original de 1,4 kb Bgl II / Bgl II foi divido em 5 subfragmentos, os quais foram clonados e sequenciados. Após a análise da homologia desta sequência com outras presentes nos bancos de dados, verificou-se que o fragmento de 1,4 kb Bgl II./ Bgl II, isolado do DNAmt de coix, contém um "cluster" gênico onde estão presentes o gene que codifica o tRNA serina (tRNAScr), um pseudo-gene provavelmente originado do tRNA fenilananina (tRNAPhe), os genes nad3 e rps12. Tais genes presentes em coix são muito similares àqueles presentes em trigo e milho, os quais se organizam também em um "c1uster" gênico muito similar ao existente em coix. Estudos de expressão realizados através de "Northern Blotting" e RT ¿PCR mostraram que os genes tRNA ser, nad3 e rps12 são transcritos, sendo os dois últimos cotranscritos. Vinte e três elones de cDNA dos transcritos dos genes nad3 e rps12 foram seqüenciados, e tiveram suas sequências comparadas com a seqüência genômica. Encontrou-se 21 sítios de edição nos transcritos do gene nad3 e 8 sítios nos transcritos do gene rps12. Após comparações entre a sequência de aminoácidos predita a partir do clone genômico e do cDNA, observou-se que todas as edições modificam o aminoácido especificado pelo codon onde O evento de edição foi detectado, tornando a sequência de aminoácidos editada diferente da prevista pela sequência genômica. Vinte sítios de edição no gene nad3, e 6 no gene rps12, alteram a identidade do codon, de modo a especificar um aminoácido mais conservado durante a evolução entre diferentes espécies vegetais. Os outros três sítios, sendo I no gene nad3 e 2 no gene rps12, acarretam mudanças raras, espécie-específicas e não conservativas. Todos os 23 elones de cDNA investigados estavam diferentemente editados, predominando os cDNAs com sítios parcialmente editados. Não foi encontrada nenhuma orientação preferencial (5' para 3', ou 3' para 5') para o processamento da edição. Discute-se os motivos do reconhecimento do gene nad3 de coix pela orf167 de M. polymorpha
Abstract: We have cloned and sequenced the nad3 and rps12 mithocondrial genes from Coix lacryma-jobi L., whose sequence were found to be similar to the corresponding genes in wheat and maize. In addition, we have indentified a tRNA Ser and a pseudo-tRNA genes on the 5¿ upstream of nad3, generating a locus organization which is identical to what has been observed in wheat and maize. The locus identification was performed with a heterologous hibridization using the mitochondrial probe orf167 from Marchantia polymorpha. The gene expression was analysed using NoI1hern hybridization and RT -PCR, indicating that nad3 and rps12 gene were cotranscribed in a 1.3 kb RNA molecule. Concernig the RNA editing, we have found 21 and 8 sites in the nad3 and rps12 genes respectively. In general terms, the observed coix mRNA editing has changed the codon identities in such a way that the NAD3- and RPS12- protein aminoacid sequence was kept closer to the corresponding ones in other organisms. However, we have detected three specie-specific editing sites which were not conservative. As for the editing processing, we have analysed 23 cDNA clones which showed different editing pattems. A predominance of partial editing was observed where the edited sites were randomly distributed.
Mestrado
Genetica Vegetal e Melhoramento
Mestre em Genética e Biologia Molecular
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Elorza, Godoy Alvaro. "Etude de l'expression des gènes nucléaires codant pour les protéïnes͏ mitochondriales RPS14 et SDH2 chez Arabidopsis thaliana." Bordeaux 2, 2004. http://www.theses.fr/2004BOR21094.
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La biogenèse mitochondriale dépend de l'expression du génome nucléaire. Nous avons étudié l'expression chez Arabidopsis thaliana du gène pour la protéine ribosomale S14 (RPS14) et des 3 gènes SDH2 de la sous-unité fer-soufre du complexe II de la chaîne respiratoire (succinate déshydrogénase). RPS14, SDH2-2 s'expriment dans tous les organes des plantes adultes. Leurs transcrits sont plus abondants dans les fleurs et en particulier dans le tapis et le pollen des anthères, en accord avec le rôle connu dans les mitochondries dans le développement floral. L'analyse des promoteurs a montré que les séquences responsables de l'expression dans les anthères sont différentes chez SDH2-1 et SDH2-2, et que les 2 gènes s'expriment de façon différente dans les extrémités des racines. Le troisième SDH2 s'exprime seulement au cours de la maturation de l'embryon, contrôlé par une région du promoteur comprise entre - 220 et - 65. Le niveau du transcrit est élevé dans les graines sèches mais diminue rapidement au cours de la germination. L'expression différentielle des trois gènes SDH2 constitue la première évidence pour des rôles physiologiques différentsMitochondrial biogenesis requires expression of nuclear genes. We have characterized the expression of the gene encoding the S14 ribosomal protein (RPS14) and of the three SDH2 genes for the iron-sulfur subunit of respiratory complex II (succinate deshydrogenase) in Arabidopsis thaliana. RPS14, SDH2-1 and SDH2-2 are expressed in all organs from adult plants. Their transcript levels are higher in flowers, particularly in pollen and tapetum, in agreement with the known mitochondrial role in flower development. Promoter analysis showed that different promoter sequences are responsible for another expression in SDH2-1 and SDH2-2, and that both genes are differentially expressed in root tips. The third SDH2 gene is expressed only during embryo maturation, under the control of a promoter region located between - 220 and - 65. Opposite to SDH2-1, SDH2-2 and RPS14, SDH2-3 transcript level is high in dry seeds but decreases during germination. This is the first evidence for non-redundant functions of the three SDH2 genes. Our results show that expression of the nuclear genes for the mitochondrial proteins RPS14 and SDH2 is regulated during A. Thaliana development
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Aguissa, Toure Almass-Houd. "Bases moléculaires de l'anémie de Diamond-Blackfan : étude structure-fonction de la protéine ribosomique RPS19 chez Saccharomyces cerevisiae." Toulouse 3, 2008. http://thesesups.ups-tlse.fr/427/.
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L'anémie de Diamond-Blackfan (ADB) est une érythroblastopénie congénitale rare associée à des mutations mono-alléliques dans plusieurs gènes de protéine ribosomique. Cette liaison suggère une relation causale entre l'altération de la biogenèse ou de la fonction des ribosomes et cette pathologie. Le gène RPS19 est le plus fréquement muté (25% des patients). Pour comprendre l'impact des mutations, en particulier les mutations ponctuelles faux-sens, nous avons engagé une étude structure-fonction de l'homologue de la protéine RPS19 chez la levure Saccharomyces cerevisiae. Parallèlement, nous avons mené un travail collaboratif pour déterminer la structure cristalline de l'homologue de RPS19 de l'archeae Pyrococcus abyssi. Nos résultats distinguent deux types de mutations : certaines, enfouies dans la structure, affectent le repliement et la stabilité de la protéine, tandis que d'autres, en surface de la protéine, inhibent l'incorporation de RPS19 dans les particules pré-ribosomiques 40S. Par ailleurs, nous avons déterminé la séquence de localisation nucléaire et les déterminants moléculaires de l'adressage nucléaire de RPS19. Les différentes mutations de RPS19 n'interfèrent pas avec ce mécanisme de transport. Ainsi, les mutations faux-sens de la protéine RPS19 affectent en premier lieu la capacité de la protéine à être incorporée dans les pré-ribosomes, ce qui altère la biogenèse des ribosomes. Ceci pourrait d'une part activer une réponse de stress et d'autre part conduire à un déficit en ribosomes, deux facteurs qui pourraient être fatals dans certains processus physiologiques comme l'érythropoïèse. Ce mécanisme peut être étendu à toute protéine ribosomique mutée dans l'ADBDiamond-Blackfan Anaemia (DBA) is a rare congenital erythroblastopenia associated with mono-allelic mutations in several ribosomal protein genes. This linkage suggests a causal relationship between alteration of ribosome biogenesis or functions and this pathology. ?The RPS19 gene is the most frequently mutated (25% of patients). To understand the impact of the mutations, especially missense mutations, we undertook a structure-function study of RPS19 homolog in yeast Saccharomyces cerevisiae and we conducted a collaborative work to determine the crystal structure of archeae Pyrococcus abyssi RPS19. Our results distinguish two types of mutations: some affect residues buried in the structure and alter the protein folding and stability, while others change amino acids at the protein surface and prevent incorporation of RPS19 into 40S pre-ribosomal particles. In addition, we determined the nuclear localization sequence and the molecular determinants of RPS19 transport to the nucleus. Mutations linked to DBA do not interfere with the nuclear localization of the protein. Thus, missense mutations in RPS19 primarily affect the ability of the protein to be incorporated into pre-ribosomes, which alters ribosome biogenesis. This could on the one hand activate a stress response and on the other hand lead to ribosome shortage, two events that could be fatal to some physiological processes like erythropoiesis. A similar mechanism can be proposed for any ribosomal protein mutated to the DBA
Book chapters on the topic "Rps17"
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Löffelhardt, W., C. Michalowski, M. Kraus, B. Pfanzagl, C. Neumann-Spallart, J. Jakowitsch, M. Brandtner, and H. J. Bohnert. "Rps10 and 6 other Ribosomal Protein Genes from the S10/Spc-Operon not Encountered On Higher Plant Plastid DNA ARE Located on the Cyanelle Genome of Cyanophora Paradoxa." In The Translational Apparatus of Photosynthetic Organelles, 155–65. Berlin, Heidelberg: Springer Berlin Heidelberg, 1991. http://dx.doi.org/10.1007/978-3-642-75145-5_13.
Full textConference papers on the topic "Rps17"
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Xiao-Rong Cui, Zheng-Song Peng, Jun Yang, Yi-Ling Hou, Xiang Ding, and Wan-Ruhou. "Cloning and sequence analysis of ribosomal protein S18 gene (RPS18) from Ailuropoda melanoleuca." In 2012 International Conference on Computer Science and Information Processing (CSIP). IEEE, 2012. http://dx.doi.org/10.1109/csip.2012.6308906.
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Zeng-Li Fan, Jun Yang, Yi-Ling Hou, Xiang Ding, Wan-Ru Hou, and Xiao-Rong Cui. "Cloning and sequence analysis of ribosomal protein S10 gene (RPS10) from Ailuropoda melanoleuca." In 2012 International Conference on Computer Science and Information Processing (CSIP). IEEE, 2012. http://dx.doi.org/10.1109/csip.2012.6308913.
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Zhao, Yongchao, Xiufang Xiong, and Yi Sun. "Abstract 4436: Neddylation of ribosomal protein S27-like and RPS27 regulates survival of breast cancer cells." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-4436.
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Godoy, Sara Mataroli de. "STATUS GENÉTICO DE ZEPHYRANTHES FLAVISSIMA: MODERADA A BAIXA DIVERSIDADE GENÉTICA SINALIZAM PARA A NECESSIDADE DE ESTRATÉGIAS DE CONSERVAÇÃO DA ESPÉCIE." In II Congresso Brasileiro de Ciências Biológicas On-line. Revista Multidisciplinar de Educação e Meio Ambiente, 2021. http://dx.doi.org/10.51189/rema/1238.
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Introdução: As espécies do gênero Zephyranthes (Amaryllidaceae), popularmente conhecidas como “lírios da chuva”, apresentam ampla utilização na ornamentação, bem como na medicina popular, devido a presença de compostos químicos que possuem atividade antiviral, antibacteriana, antifúngica e antitumoral. No Brasil, o gênero é representado por cerca de 17 espécies, das quais cinco se encontram ameaçadas de extinção. Nativa do Brasil, a espécie Zephyranthes flavissima Ravenna ocorre em florestas ciliares ou de galeria e sobre afloramentos rochosos, dos três estados da região Sul, entretanto, seu estado de conservação é desconhecido, o que impõe a necessidade de estudos genéticos para a mesma. Objetivo: Verificar o status genético da espécie. Metodologia: Foram aplicados marcadores moleculares AFLP, rpl32-trnL e rps16-trnK em 96 indivíduos de cinco populações da espécie, provenientes de afloramentos rochosos basálticos do Paraná. Resultados: Níveis moderados a baixos de diversidade genética foram observados, a partir dos marcadores AFLP, e extremamente baixos para os marcadores plastidiais, tendo sido observados apenas dois haplótipos para a região rpl32-trnL e um haplótipo para rps16-trnK. De maneira geral, as cinco populações se mostraram altamente estruturadas, o que foi corroborado pela presença de baixas taxas de fluxo gênico. Discussão: O isolamento genético observado para espécie resulta tanto do tipo de ambiente na qual ela ocorre, quanto do estado de conservação da vegetação circundante. Os afloramentos rochosos apresentam-se naturalmente isolados geograficamente e ecologicamente, constituindo verdadeiras ilhas terrestres (Inselbergs). Além disso, os impactos antropogênicos sofrido por esses ambientes (dinamitação para extração de pedra brita) e a fragmentação das florestas que circundam esses afloramentos reduzem, ainda mais, a capacidade dos polinizadores, bem como a dispersão de sementes. Como consequência, as populações tornam-se cada vez mais isoladas, o que favorece o cruzamento entre indivíduos aparentados e a endogamia. A longo prazo, a endogamia tem efeitos drásticos sobre a diversidade genética, reduzindo o potencial adaptativo-evolutivo das populações. Conclusão: Considerando a velocidade com que a taxa de extinção de espécies vem ocorrendo no planeta e o status genético nada favorável de Z. flavissima, nosso estudo evidencia a urgência no desenvolvimento de estratégias de conservação para a espécie e os afloramentos rochosos de ocorrência da mesma.
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Aprigio, Nicollas Gabriel de Oliveira, Daniele Cassiano Feliciano, José Roberto Ferraz, João Fernando Marques Da Silva, and Sara Mataroli De Godoy. "DIVERSIDADE GENÉTICA E ESTRUTURAÇÃO POPULACIONAL DA ESPÉCIE ENDÊMICA DO PARANÁ ZEPHYRANTHES PARANAENSIS." In II Congresso Brasileiro de Ciências Biológicas On-line. Revista Multidisciplinar de Educação e Meio Ambiente, 2021. http://dx.doi.org/10.51189/rema/1231.
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Introdução: O gênero Zephyranthes (Amaryllidaceae) é formado por herbáceas de pequeno porte conhecidas popularmente como “lírios da chuva”, por florescerem após períodos chuvosos. Além da utilização ornamental, também produzem compostos bioquímicos úteis à medicina popular. Ocorrem no Brasil cerca de 17 espécies e, dentre estas, Zephyranthes paranaensis Ravenna é uma espécie ameaçada de extinção devido à sua distribuição restrita e descontínua em afloramentos rochosos do Paraná, ambientes fortemente impactados pela ação antrópica. Contudo, não há dados genéticos disponíveis para a espécie, os quais são essenciais para o desenvolvimento de estratégias de conservação. Objetivo: Verificar o status genético de Z. paranaensis. Metodologia: Foram aplicados marcadores moleculares AFLP, rpl32-trnL e rps16-trnK em 215 indivíduos de nove populações da espécie, coletados em afloramentos rochosos basálticos do Paraná, abrangendo sua área total de distribuição. Resultados: Níveis relativamente baixos de diversidade genética foram observados a partir dos marcadores AFLP, e extremamente baixos para os marcadores plastidiais, com dois haplótipos para a região rpl32-trnL e apenas um haplótipo para rps16-trnK. Estruturação genética entre moderada e forte foi observada na maioria dos pares de populações, além de baixos níveis de fluxo gênico. Discussão: A baixa diversidade genética observada possivelmente resulta do declínio do estado de conservação do hábitat circundante, associado à natural descontinuidade dos afloramentos rochosos. Também as atividades agrícolas e pastoris da região reduzem constantemente o hábitat disponível para polinizadores e dispersores de sementes, prejudicando o fluxo gênico mesmo entre populações próximas. Além disso, os afloramentos rochosos sofrem impactos antropogênicos durante o extrativismo de pedra brita, e mesmo após o encerramento destas atividades, as espécies nativas dificilmente retornarão a seu status original, devido a competição com espécies invasoras. Neste cenário de ambientes reduzidos e isolados a taxa de endogamia tende a aumentar, podendo, a longo prazo, intensificar a perda de diversidade genética e, consequentemente, potencial adaptativo da espécie. Conclusão: Os dados genéticos obtidos para Z. paranaensis reforçam sua classificação como espécie ameaçada e, considerando que sua diversidade genética tende ao declínio, é impreterível que sejam desenvolvidas estratégias de conservação, tanto para a espécie quanto para os afloramentos rochosos onde