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Artículos de revistas sobre el tema "Genetic Mutation"

Autor: Grafiati

Publicado: 4 de junio de 2021

Última modificación: 26 de julio de 2025

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1

Wayne, Marta L., and Trudy F. C. Mackay. "Quantitative Genetics of Ovariole Number in Drosophila melanogaster. II. Mutational Variation and Genotype-Environment Interaction." Genetics 148, no. 1 (1998): 201–10. http://dx.doi.org/10.1093/genetics/148.1.201.

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Abstract The rare alleles model of mutation-selection balance (MSB) hypothesis for the maintenance of genetic variation was evaluated for two quantitative traits, ovariole number and body size. Mutational variances (VM) for these traits, estimated from mutation accumulation lines, were 4.75 and 1.97 × 10−4 times the environmental variance (VE), respectively. The mutation accumulation lines were studied in three environments to test for genotype × environment interaction (GEI) of new mutations; significant mutational GEI was found for both traits. Mutations for ovariole number have a quadratic

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2

Kelly, John K. "Deleterious Mutations and the Genetic Variance of Male Fitness Components in Mimulus guttatus." Genetics 164, no. 3 (2003): 1071–85. http://dx.doi.org/10.1093/genetics/164.3.1071.

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Abstract Deleterious mutations are relevant to a broad range of questions in genetics and evolutionary biology. I present an application of the “biometric method” for estimating mutational parameters for male fitness characters of the yellow monkeyflower, Mimulus guttatus. The biometric method rests on two critical assumptions. The first is that experimental inbreeding changes genotype frequencies without changing allele frequencies; i.e., there is no genetic purging during the experiment. I satisfy this condition by employing a breeding design in which the parents are randomly extracted, full

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3

Shatavi, Seerin Viviane, Lindsay Dohany, Mohammad Muhsin Chisti, Ishmael A. Jaiyesimi, and Dana Zakalik. "Unique genetic characteristics of BRCA mutation carriers in a cohort of Arab American women." Journal of Clinical Oncology 31, no. 15_suppl (2013): 1541. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.1541.

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1541 Background: Worldwide ethnic variations in the distribution of BRCA1 and BRCA2 mutations of breast cancer patients have been recently recognized. This has led to investigations of the epidemiology, genetics and clinical characteristics of BRCA positive individuals within specific populations. This study aims to describe the findings of BRCA genetic testing in a cohort of Arab American women. Methods: A total of 73 women of Arab ancestry were evaluated in the Beaumont Cancer Genetics Program from Jan 2008 to Jan 2013. Criteria for genetic testing included a personal or family history sugge

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4

Dugand, Robert J., J. David Aguirre, Emma Hine, Mark W. Blows, and Katrina McGuigan. "The contribution of mutation and selection to multivariate quantitative genetic variance in an outbred population of Drosophila serrata." Proceedings of the National Academy of Sciences 118, no. 31 (2021): e2026217118. http://dx.doi.org/10.1073/pnas.2026217118.

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Genetic variance is not equal for all multivariate combinations of traits. This inequality, in which some combinations of traits have abundant genetic variation while others have very little, biases the rate and direction of multivariate phenotypic evolution. However, we still understand little about what causes genetic variance to differ among trait combinations. Here, we investigate the relative roles of mutation and selection in determining the genetic variance of multivariate phenotypes. We accumulated mutations in an outbred population of Drosophila serrata and analyzed wing shape and siz

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5

Pawlik, Timothy M., Darrell R. Borger, Yuhree Kim, et al. "Genomic profiling of intrahepatic cholangiocarcinoma: Refining prognostic determinants and identifying therapeutic targets." Journal of Clinical Oncology 32, no. 3_suppl (2014): 210. http://dx.doi.org/10.1200/jco.2014.32.3_suppl.210.

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210 Background: The molecular alterations that drive tumorigenesis in intrahepatic cholangiocarcinoma (ICC) remain poorly defined. We sought to define the incidence and prognostic significance of mutations associated with ICC among patients undergoing surgical resection. Methods: 138 patients who underwent resection at 6 centers in the United States and Europe were included in the cohort. Mutational profiling was performed using nucleic acids that were extracted from resected ICC tumor specimens; mutations were identified using a multiplexed mutational profiling platform. The frequency of muta

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6

Keightley, Peter D., and Ohmi Ohnishi. "EMS-Induced Polygenic Mutation Rates for Nine Quantitative Characters in Drosophila melanogaster." Genetics 148, no. 2 (1998): 753–66. http://dx.doi.org/10.1093/genetics/148.2.753.

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Abstract Polygenic mutations were induced by treating Drosophila melanogaster adult males with 2.5 mm EMS. The treated second chromosomes, along with untreated controls, were then made homozygous, and five life history, two behavioral, and two morphological traits were measured. EMS mutagenesis led to reduced performance for life history traits. Changes in means and increments in genetic variance were relatively much higher for life history than for morphological traits, implying large differences in mutational target size. Maximum likelihood was used to estimate mutation rates and parameters

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7

Lim, Siew Mooi, Abu Bakar Md Sultan, Md Nasir Sulaiman, Aida Mustapha, and K. Y. Leong. "Crossover and Mutation Operators of Genetic Algorithms." International Journal of Machine Learning and Computing 7, no. 1 (2017): 9–12. http://dx.doi.org/10.18178/ijmlc.2017.7.1.611.

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8

Wang, Gaowei, Hang Su, Helin Yu, Ruoshi Yuan, Xiaomei Zhu, and Ping Ao. "Endogenous network states predict gain or loss of functions for genetic mutations in hepatocellular carcinoma." Journal of The Royal Society Interface 13, no. 115 (2016): 20151115. http://dx.doi.org/10.1098/rsif.2015.1115.

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Cancers have been typically characterized by genetic mutations. Patterns of such mutations have traditionally been analysed by posteriori statistical association approaches. One may ponder the possibility of a priori determination of any mutation regularity. Here by exploring biological processes implied in a mechanistic theory recently developed (the endogenous molecular–cellular network theory), we found that the features of genetic mutations in cancers may be predicted without any prior knowledge of mutation propensities. With hepatocellular carcinoma (HCC) as an example, we found that the

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9

Mazurenko, N. N., I. S. Beliakov, I. V. Tsyganova, et al. "Prognostic relevance of genetic aberrations in gastrointestinal stromal tumors." Journal of Clinical Oncology 29, no. 4_suppl (2011): 49. http://dx.doi.org/10.1200/jco.2011.29.4_suppl.49.

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49 Background: Gastrointestinal stromal tumours (GISTs) contain oncogenic KIT or PDGFRA tyrosine kinase (TK) mutations leading to disturbance of downstream signaling pathways that contribute to GIST pathogenesis. Additional genetic aberrations were found in GISTs, demonstrating the involvement of other genes important in tumor progression. The aim of the study was to evaluate the prognostic relevance of different TK mutations in GISTs and to analyze the additional genetic aberrations in GISTs according to mutational status. Methods: 180 GIST patients were examined for KIT (9, 11, 13, 17 exons)

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10

Juriloff, D. M., S. D. Porter, and M. J. Harris. "Three spontaneous mutations at the albino locus in SELH/Bc mice." Genome 37, no. 2 (1994): 190–97. http://dx.doi.org/10.1139/g94-026.

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The SELH/Bc inbred mouse stock has produced an unusually high number of spontaneous mutations, including sph2Bc, nuBc, a recessive lens opacity, and three mutations at the c locus. Classical genetic and molecular genetic studies were done to investigate the origin of the albino locus mutations. Southern blots probed with the mouse tyrosinase cDNA showed that two of the mutations, cBc and c2Bc, are deletions of exons 1, 2 and 3. The third mutation, c3Bc, showed a disruption, either a rearrangement or an insertion, in the region of exon 1. The deletion of the cBc mutation is anticipated to be la

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11

Hutchin, Timothy P., and Gino A. Cortopassi. "Multiple Origins of a Mitochondrial Mutation Conferring Deafness." Genetics 145, no. 3 (1997): 771–76. http://dx.doi.org/10.1093/genetics/145.3.771.

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A point mutation (1555G) in the smaller ribosomal subunit of the mitochondrial DNA (mtDNA) has been associated with maternally inherited traits of hypersensitivity to streptomycin and sensorineural deafness in a number of families from China, Japan, Israel, and Africa. To determine whether this distribution was the result of a single or multiple mutational events, we carried out genetic distance analysis and phylogenetic analysis of 10 independent mtDNA D-loop sequences from Africa and Asia. The mtDNA sequence diversity was high (2.21%). Phylogenetic analysis assigned 1555G-bearing haplotypes

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12

Johnson, Toby. "Beneficial Mutations, Hitchhiking and the Evolution of Mutation Rates in Sexual Populations." Genetics 151, no. 4 (1999): 1621–31. http://dx.doi.org/10.1093/genetics/151.4.1621.

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Abstract Natural selection acts in three ways on heritable variation for mutation rates. A modifier allele that increases the mutation rate is (i) disfavored due to association with deleterious mutations, but is also favored due to (ii) association with beneficial mutations and (iii) the reduced costs of lower fidelity replication. When a unique beneficial mutation arises and sweeps to fixation, genetic hitchhiking may cause a substantial change in the frequency of a modifier of mutation rate. In previous studies of the evolution of mutation rates in sexual populations, this effect has been un

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13

Houle, David, Bob Morikawa, and Michael Lynch. "Comparing Mutational Variabilities." Genetics 143, no. 3 (1996): 1467–83. http://dx.doi.org/10.1093/genetics/143.3.1467.

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Abstract We have reviewed the available data on VM, the amount of genetic variation in phenotypic traits produced each generation by mutation. We use these data to make several qualitative tests of the mutation-selection balance hypothesis for the maintenance of genetic variance (MSB). To compare VM values, we use three dimensionless quantities: mutational heritability, the mutational coefficient of variation, CVM; and the ratio of the standing genetic variance to VM, VG/VM. Since genetic coefficients of variation for life history traits are larger than those for morphological traits, we predi

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14

Zametica, Berina, Sonja Mačar, Abdurahim Kalajdžić, Amela Pilav, Mirela Džehverović, and Jasmina Čakar. "Mutation Analysis of Autosomal STR Loci Commonly Used in Paternity Testing in Bosnia and Herzegovina." Genetics & Applications 2, no. 1 (2018): 14. http://dx.doi.org/10.31383/ga.vol2iss1pp14-18.

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Mutation analysis in forensic genetics and occurrence of mutations at short-tandem repeat (STR) loci, are very important in paternity testing and precise elucidation of obtained genetic profiles. To determine these locus-specific mutations in Bosnian-Herzegovinian population and their rate, 15 or 22 autosomal loci were typed using PowerPlex 16 and PowerPlex Fusion systems. In total, 1253 individuals within 583 parenthood testing cases were profiled at the Institute for Genetic Engineering and Biotechnology, University of Sarajevo during the period from 2009-2018. Out of total cases, in 13 ca

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15

Swan, Rebecca E., Madeleine Pitcathley, Jacqueline Dunlop, and Wen Ling Choong. "Breast cancer referrals to NHS Tayside genetic service: Are we meeting target timelines?" Breast Global Journal 1, no. 3 (2023): 109–14. http://dx.doi.org/10.4103/bgj.bgj_19_23.

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Abstract Introduction: Mutations in BRCA1 and BRCA2 account for 5%–10% of all female breast cancers. Identifying these mutations at diagnosis can aid shared decision-making in the surgical and oncological setting. This study aims to assess the results of genetic testing at diagnosis and the time taken to receive results. Materials and Methods: A prospective database of all patients with newly diagnosed breast cancers who met the criteria and were referred for urgent genetic testing in National health service (NHS) (Tayside) between December 2017 and December 2020 was analyzed for results of ge

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16

Zhang, Xu-Sheng, Jinliang Wang, and William G. Hill. "Pleiotropic Model of Maintenance of Quantitative Genetic Variation at Mutation-Selection Balance." Genetics 161, no. 1 (2002): 419–33. http://dx.doi.org/10.1093/genetics/161.1.419.

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AbstractA pleiotropic model of maintenance of quantitative genetic variation at mutation-selection balance is investigated. Mutations have effects on a metric trait and deleterious effects on fitness, for which a bivariate gamma distribution is assumed. Equations for calculating the strength of apparent stabilizing selection (Vs) and the genetic variance maintained in segregating populations (VG) were derived. A large population can hold a high genetic variance but the apparent stabilizing selection may or may not be relatively strong, depending on other properties such as the distribution of

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17

Zhou, Rong-Fu, Zhou Na, and OuYang Jian. "Studies on the Genetic Mutations of Hereditary Fibrinogen Disorder." Blood 128, no. 22 (2016): 4954. http://dx.doi.org/10.1182/blood.v128.22.4954.4954.

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Abstract Hereditary fibrinogen disorder is a rare kind of bleeding disease, which divided into two types. Type I is a kind of quantity disorder, including afibrinogenemia and hypofibrinogenemia. Type II is a kind of quality disorder, including dysfibrinogenemia. Fibrinogen is a kind of hexameric glycoprotein and consists of two pairs of three chains, which are Aα, Bβ and γchain. FGA、FGB and FGG code for the relevant glycoprotein. The mutations on these genes are responsible for this disorder. In this study, the levels of fibrinogen antigen of 12 cases with low fibrinogen activity were firstly

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18

CEBRAT, S., and D. STAUFFER. "INFLUENCE OF A SMALL FRACTION OF INDIVIDUALS WITH ENHANCED MUTATIONS ON A POPULATION GENETIC POOL." International Journal of Modern Physics C 20, no. 08 (2009): 1271–79. http://dx.doi.org/10.1142/s0129183109014333.

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It has been observed that a higher mutation load could be introduced into the genomes of children conceived by assisted reproduction technology (fertilization in-vitro). This generates two effects — slightly higher mutational pressure on the whole genetic pool of population and inhomogeneity of mutation distributions in the genetic pool. Computer simulations of the Penna ageing model suggest that already a small fraction of births with enhanced number of new mutations can negatively influence the whole population.

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19

Keightley, P. D., and W. G. Hill. "Quantitative genetic variation in body size of mice from new mutations." Genetics 131, no. 3 (1992): 693–700. http://dx.doi.org/10.1093/genetics/131.3.693.

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Abstract To measure the amount of new genetic variation in 6-week weight of mice arising each generation from mutation, selection lines derived from an initially inbred strain were maintained for 25 generations. An analysis using an animal model with restricted maximum likelihood was applied to estimate a mutational genetic component of variance for the infinitesimal model of many genes of small effect. Assuming that the inbred base population was at a mutation-drift equilibrium, it is estimated that the heritability for body size has increased by 1.0% per generation, with lower and upper conf

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20

Finkielstain, Gabriela P., Wuyan Chen, Sneha P. Mehta, et al. "Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency." Journal of Clinical Endocrinology & Metabolism 96, no. 1 (2011): E161—E172. http://dx.doi.org/10.1210/jc.2010-0319.

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Background: Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Study Objective: The objective of the study was to describe comprehensive CYP21A2 mutation analysis in a large cohort of CAH patients. Methods: Targeted CYP21A2 mutation analysis was performed in 213 patients and 232 parents from 182 unrelated families. Complete exons of CYP21A2 were sequenced in patients in whom positive mutations were not identified by targeted mutation analysis. Copy number variation and deletions were determined using Southern blot anal

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21

Wen, Zhengqi, Hushan Zhang, Ruize Zhou, Xihong Liu, and Wenliang Li. "Abstract 5403: Genetic, immunologic and prognostic heterogeneity in CRC patients with KRAS mutations." Cancer Research 82, no. 12_Supplement (2022): 5403. http://dx.doi.org/10.1158/1538-7445.am2022-5403.

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Abstract Genetic, immunologic and prognostic heterogeneity in CRC patients with KRAS mutations Background Currently, most patients with mCRC are treated with a combination of a cytotoxic and a biologic agent. Several factors should be put into account which influencing the treatment strategy for patients with mCRC. including tumor resectability, prior systemic therapy; tumor location (left or right), and molecular characteristics such as mutation in gene Kirsten rat sarcoma viral oncogene homolog (KRAS). It has been demonstrated to be a tightly associated with poor response to anti-EGFR treatm

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22

Kimura, Tomoki, Haruna Kawano, Satoru Muto, et al. "PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease." Biomolecules 13, no. 7 (2023): 1020. http://dx.doi.org/10.3390/biom13071020.

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Background: Autosomal dominant polycystic kidney disease (ADPKD) occurs in 1 in 500–4000 people worldwide. Genetic mutation is a biomarker for predicting renal dysfunction in patients with ADPKD. In this study, we performed a genetic analysis of Japanese patients with ADPKD to investigate the prognostic utility of genetic mutations in predicting renal function outcomes. Methods: Patients clinically diagnosed with ADPKD underwent a panel genetic test for germline mutations in PKD1 and PKD2. This study was conducted with the approval of the Ethics Committee of Juntendo University (no. 2019107).

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23

Sharma, D. K. "Mutation, the Structural Genetic Change: A Short Review." Indian Journal of Genetics and Molecular Research 9, no. 1 (2020): 23–27. http://dx.doi.org/10.21088/ijgmr.2319.4782.9120.3.

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24

Faraji-Rad, Mohammad. "Epidemiological Study of Molecular and Genetic Classification in Adult Diffuse Glioma." International Journal of Surgery & Surgical Techniques 6, no. 2 (2022): 1–5. http://dx.doi.org/10.23880/ijsst-16000171.

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Background: Mutations in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) are frequent in lowgrade and high-grade gliomas. However, the diagnostic criteria, in particular for gliomas, are highly various. The aim of our study was to establish genetic profiles for mutation and calcification of diffuse gliomas and to evaluate their predictive factors. Methods: We estimate the different clinical and molecular characterization between IDH1, IDH2 mutant gliomas, p53, ATRX and 1p19q. In addition, whole-transcriptome sequencing and DNA extraction data were used to evaluate the d

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25

Kozela, Christopher, and Mark O. Johnston. "Effect of Salt Stress on Mutation and Genetic Architecture for Fitness Components in Saccharomyces cerevisiae." G3: Genes|Genomes|Genetics 10, no. 10 (2020): 3831–42. http://dx.doi.org/10.1534/g3.120.401593.

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Mutations shape genetic architecture and thus influence the evolvability, adaptation and diversification of populations. Mutations may have different and even opposite effects on separate fitness components, and their rate of origin, distribution of effects and variance-covariance structure may depend on environmental quality. We performed an approximately 1,500-generation mutation-accumulation (MA) study in diploids of the yeast Saccharomyces cerevisiae in stressful (high-salt) and normal environments (50 lines each) to investigate the rate of input of mutational variation (Vm) as well as the

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26

Fu, Yun-Xin, and Haying Huai. "Estimating Mutation Rate: How to Count Mutations?" Genetics 164, no. 2 (2003): 797–805. http://dx.doi.org/10.1093/genetics/164.2.797.

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Abstract Mutation rate is an essential parameter in genetic research. Counting the number of mutant individuals provides information for a direct estimate of mutation rate. However, mutant individuals in the same family can share the same mutations due to premeiotic mutation events, so that the number of mutant individuals can be significantly larger than the number of mutation events observed. Since mutation rate is more closely related to the number of mutation events, whether one should count only independent mutation events or the number of mutants remains controversial. We show in this ar

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27

Kim, Youn Jung, Hong Zhang, Yejin Lee, et al. "Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta." Journal of Personalized Medicine 13, no. 2 (2023): 326. http://dx.doi.org/10.3390/jpm13020326.

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Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form. A better understanding of normal amelogenesis and improvements in our ability to diagnose AI through genetic testing can be realized through more complete knowledge of the genes and disease-causing variants that cause AI. In this study, mutational analysis was performed with whole exome sequencing (WES) to identify genetic etiology underlying the hypomaturation AI condition in affected families. Mutational analy

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28

Calabrese, Peter P., Richard T. Durrett, and Charles F. Aquadro. "Dynamics of Microsatellite Divergence Under Stepwise Mutation and Proportional Slippage/Point Mutation Models." Genetics 159, no. 2 (2001): 839–52. http://dx.doi.org/10.1093/genetics/159.2.839.

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Abstract Recently Kruglyak, Durrett, Schug, and Aquadro showed that microsatellite equilibrium distributions can result from a balance between polymerase slippage and point mutations. Here, we introduce an elaboration of their model that keeps track of all parts of a perfect repeat and a simplification that ignores point mutations. We develop a detailed mathematical theory for these models that exhibits properties of microsatellite distributions, such as positive skewness of allele lengths, that are consistent with data but are inconsistent with the predictions of the stepwise mutation model.

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Khurtsilava, Ia, Dodo Agladze, Tsitsino Parulava, Lali Margvelashvili, and Oleg Kvlividze. "Specifics of cystic fibrosis genetic spectrum in Georgia." IP Indian Journal of Immunology and Respiratory Medicine 8, no. 4 (2024): 145–49. http://dx.doi.org/10.18231/j.ijirm.2023.029.

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Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). F508del is the most common mutation in the world. Other mutations are rare and population specific. The study aimed to comprehensively analyze the distribution of CFTR mutations in Georgian CF patients. Knowing the prevalence and characteristics of specific mutations can be reflected in genetic counseling and management strategies. We reviewed the data of 129 CF patients, aged &#60; 18 years, from all parts of Georgia. 91 patient

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30

Li, Jin-Long, Jian Li, and Hong-Wen Deng. "The Effect of Overdominance on Characterizing Deleterious Mutations in Large Natural Populations." Genetics 151, no. 2 (1999): 895–913. http://dx.doi.org/10.1093/genetics/151.2.895.

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Abstract Alternatives to the mutation-accumulation approach have been developed to characterize deleterious genomic mutations. However, they all depend on the assumption that the standing genetic variation in natural populations is solely due to mutation-selection (M-S) balance and therefore that overdominance does not contribute to heterosis. Despite tremendous efforts, the extent to which this assumption is valid is unknown. With different degrees of violation of the M-S balance assumption in large equilibrium populations, we investigated the statistical properties and the robustness of thes

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31

Nicolson, Norman G., Timothy D. Murtha, Weilai Dong, et al. "Comprehensive Genetic Analysis of Follicular Thyroid Carcinoma Predicts Prognosis Independent of Histology." Journal of Clinical Endocrinology & Metabolism 103, no. 7 (2018): 2640–50. http://dx.doi.org/10.1210/jc.2018-00277.

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Abstract Context Follicular thyroid carcinoma (FTC) is classified into minimally invasive (miFTC), encapsulated angioinvasive (eaFTC), and widely invasive (wiFTC) subtypes, according to the 2017 World Health Organization guidelines. The genetic signatures of these subtypes may be crucial for diagnosis, prognosis, and treatment but have not been described. Objective Identify and describe the genetic underpinnings of subtypes of FTC. Methods Thirty-nine tumors, comprising 12 miFTCs, 17 eaFTCs, and 10 wiFTCs, were whole-exome sequenced and analyzed. Somatic mutations, constitutional sequence vari

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Mirza, M. A., A. Sehbai, T. Nestor, V. Brown, and J. Abraham. "BRCA mutations: An Appalachian experience." Journal of Clinical Oncology 24, no. 18_suppl (2006): 20111. http://dx.doi.org/10.1200/jco.2006.24.18_suppl.20111.

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20111 Background: BRCA1 and 2 mutations are rare in general population and women with these mutations confer a significantly increased risk of invasive breast and ovarian cancer (65% to 85%, and 15% to 65% cumulative lifetime risk, respectively). A few of these are variant mutations also known as Variant of unknown significance (VUS). Methods: Observational study of 155 patients who presented to MBRCC, WVU for genetic counseling between November 2001 and March 2005. Patients underwent genetic testing after detailed genetic counseling. Clinical data, such as patient’s age, ethnic origin, follow

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33

Charlesworth, Brian. "Causes of natural variation in fitness: Evidence from studies of Drosophila populations." Proceedings of the National Academy of Sciences 112, no. 6 (2015): 1662–69. http://dx.doi.org/10.1073/pnas.1423275112.

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DNA sequencing has revealed high levels of variability within most species. Statistical methods based on population genetics theory have been applied to the resulting data and suggest that most mutations affecting functionally important sequences are deleterious but subject to very weak selection. Quantitative genetic studies have provided information on the extent of genetic variation within populations in traits related to fitness and the rate at which variability in these traits arises by mutation. This paper attempts to combine the available information from applications of the two approac

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34

Pletcher, Scott D., David Houle, and James W. Curtsinger. "Age-Specific Properties of Spontaneous Mutations Affecting Mortality in Drosophila melanogaster." Genetics 148, no. 1 (1998): 287–303. http://dx.doi.org/10.1093/genetics/148.1.287.

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Abstract An analysis of the effects of spontaneous mutations affecting age-specific mortality was conducted using 29 lines of Drosophila melanogaster that had accumulated spontaneous mutations for 19 generations. Divergence among the lines was used to estimate the mutational variance for weekly mortality rates and the covariance between weekly mortality rates at different ages. Significant mutational variance was observed in both males and females early in life (up to ~30 days of age). Mutational variance was not significantly different from zero for mortality rates at older ages. Mutational c

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35

Deng, Hong-Wen, and Michael Lynch. "Estimation of Deleterious-Mutation Parameters in Natural Populations." Genetics 144, no. 1 (1996): 349–60. http://dx.doi.org/10.1093/genetics/144.1.349.

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Abstract The rate and average effects of spontaneous deleterious mutations are important determinants of the evolution of breeding systems and of the vulnerability of small populations to extinction. Nevertheless, few attempts have been made to estimate the properties of such mutations, and those studies that have been performed have been extremely labor intensive, relying on long-term, laboratory mutation-accumulation experiments. We present an alternative to the latter approach. For populations in which the genetic variance for fitness is a consequence of selection-mutation balance, the mean

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36

May, Suepattra G., Caroline Huber, Alison R. Silverstein, et al. "HSR19-099: Harnessing the Voice of Patients With Genetic Mutations in NSCLC Treatment." Journal of the National Comprehensive Cancer Network 17, no. 3.5 (2019): HSR19–099. http://dx.doi.org/10.6004/jnccn.2018.7208.

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Background: Targeted therapies for non-small lung cancer (NSCLC) have vastly improved survival and other outcomes for patients whose tumors have genetic mutations such as ALK, BRAF, EGFR, and ROS1. Identification of genetic mutations often indicates a mutation-specific course of therapy; however, the relationship between genetic mutation status, patient treatment preferences, and other determinants of patient value in NSCLC cancer care is not well understood. Methods: Qualitative study utilizing focus groups and in-depth interviews were conducted with metastatic NSCLC patients who had received

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Keightley, Peter D., Esther K. Davies, Andrew D. Peters, and Ruth G. Shaw. "Properties of Ethylmethane Sulfonate-Induced Mutations Affecting Life-History Traits in Caenorhabditis elegans and Inferences About Bivariate Distributions of Mutation Effects." Genetics 156, no. 1 (2000): 143–54. http://dx.doi.org/10.1093/genetics/156.1.143.

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Abstract The homozygous effects of ethylmethane sulfonate (EMS)-induced mutations in Caenorhabditis elegans are compared across life-history traits. Mutagenesis has a greater effect on early than late reproductive output, since EMS-induced mutations tend to cause delayed reproduction. Mutagenesis changes the mean and variance of longevity much less than reproductive output traits. Mutations that increase total or early productivity are not detected, but the net effect of mutations is to increase and decrease late productivity to approximately equal extents. Although most mutations decrease lon

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Favor, Jack. "Risk estimation based on germ-cell mutations in animals." Genome 31, no. 2 (1989): 844–52. http://dx.doi.org/10.1139/g89-149.

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The set of mouse germ cell mutation rate results following spermatogonial exposure to high dose rate irradiation have been presented as the most relevant experimental results upon which to extrapolate the expected genetic risk of offspring of the survivors of the Hiroshima and Nagasaki atomic bombings. Results include mutation rates to recessive specific-locus, dominant cataract, protein-charge, and enzyme-activity alleles. The mutability as determined by the various genetic end points differed: the mutation rates to recessive specific-locus alleles and enzyme-activity alleles were similar and

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Widyastiti, Nyoman Suci, Ita Margaretha Nainggolan, Edward Kurnia Setiawan Limijadi, et al. "Genetic heterogeneity of thalassemia major patients in Rembang Regency, Central Java, Indonesia." Bali Medical Journal 12, no. 2 (2023): 1633–39. http://dx.doi.org/10.15562/bmj.v12i2.4482.

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Link of Video Abstract: https://www.youtube.com/watch?v=RG95aJkUndg Background: Thalassemia and hemoglobinopathies are caused by mutations in the globin genes that reduce haemoglobin synthesis. In many Asian countries, including Indonesia, thalassemia is a common inherited disorder. Thalassemia has specific characteristics due to the wide variability of the mutations from various populations. Therefore, screening protocol should be designed on specific populations’ regional gene mutation patterns. This study aims to investigate the mutational diversity of the globin genes in thalassemia major

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Prontera, P., P. Sarchielli, S. Caproni, et al. "Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications." Cephalalgia 38, no. 2 (2017): 361–73. http://dx.doi.org/10.1177/0333102416686347.

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Objective We performed a systematic review on the comorbidities of familial/sporadic hemiplegic migraine (F/SHM) with seizure/epilepsy in patients with CACNA1A, ATP1A2 or SCN1A mutations, to identify the genotypes associated and investigate for the presence of mutational hot spots. Methods We performed a search in MEDLINE and in the Human Gene Mutation and Leiden Open Variation Databases for mutations in the CACNA1A, ATP1A2 and SCN1A genes. After having examined the clinical characteristics of the patients, we selected those having HM and seizures, febrile seizures or epilepsy. For each gene,

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Li, Shaoqun, Mingyao Lai, and Linbo Cai. "OTHR-25 Germline Mutations in Pediatric Brain Tumor." Neuro-Oncology 24, Supplement_1 (2022): i152. http://dx.doi.org/10.1093/neuonc/noac079.564.

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Abstract BACKGROUND: The exploration of germline mutations in pediatric brain tumor is helpful to improve the understanding of tumor genesis, guide the treatment, and provide genetic counseling for patients and their families. METHODS: In this study, children with primary brain tumor aged ≤18 years old in Guangdong Sanjiu Brain Hospital were enrolled．Tumor tissue or cerebrospinal fluid (CSF) next-generation sequencing (NGS) tests were required for all included patients. The genetic mutations in these children were analyzed and patients with germline mutations were screened. RESULTS: 135 pediat

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Anjos, Laura Gonzalez dos, Giovanna Quevedo, Edmund Baracat, and Katia C. Carvalho. "Abstract 1766: CREBBP, NOTCH2 and GNASmutational profile in uterine sarcomas." Cancer Research 84, no. 6_Supplement (2024): 1766. http://dx.doi.org/10.1158/1538-7445.am2024-1766.

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Abstract Background: Uterine sarcomas (US) present clinical challenges due to their dynamic behavior and limited treatment options. Representing 1-3% of uterine cancer cases, these tumors exhibit rapid growth, high recurrence rates, and resistance to the standard treatments. The present study aimed to validate several Loss-of-function mutations (LOF), obtained by NGS analysis in the CREBBP, NOTCH2, and GNAS sequences, in US through Sanger sequencing. Methods: Twenty-five samples of US were collected between 2000 and 2015 for genomic DNA extraction. An initial genetic screening of the samples b

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Do, Minh Duc, Thang Viet Tran, Hoang Linh Le Gia, et al. "Pheochromocytoma: Impact of genetic testing on clinical practice in Vietnam." MedPharmRes 5, no. 2 (2021): 12–16. http://dx.doi.org/10.32895/ump.mpr.5.2.3.

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Introduction: Germline mutations in predisposing genes have been found in 30-40% of pheochromocytoma/paraganglioma patients. Screening for inherited genetic mutations provide clinicians with mutation-positive patient management strategies in addition to identifying family members at risk of disease. However, genetic testing for pheochromocytoma has not been performed widely in Vietnam. Methods: Seven patients diagnosed with pheochromocytoma in Vietnam underwent germline genetic testing in known pheochromocytoma-associated genes by direct sequencing. When a germline mutation was identified the

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Salo-Mullen, Erin E., Eileen Mary O'Reilly, David Paul Kelsen, et al. "Identification of germline genetic mutations in patients with pancreatic adenocarcinoma." Journal of Clinical Oncology 31, no. 4_suppl (2013): 159. http://dx.doi.org/10.1200/jco.2013.31.4_suppl.159.

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159 Background: The emergence of PARP-inhibitors for potential treatment of BRCA-associated cancers highlights the importance of identifying germline mutations in individuals with pancreatic adenocarcinoma (PAC) (NCT 01585805 for PARP-i in PAC). Optimal selection of PAC patients for genetic testing remains to be determined. Our objective was to investigate prevalence of germline mutations in our PAC patients. Methods: MSKCC Clinical Genetics database was reviewed for PAC patients offered germline testing from 1/1/2011 to present. Clinical data was extracted from records. Pedigrees were reviewe

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Lamb, Bernard C., Muhammad Saleem, William Scott, Nina Thapa, and Eviatar Nevo. "Inherited and Environmentally Induced Differences in Mutation Frequencies Between Wild Strains of Sordaria fimicola From “Evolution Canyon”." Genetics 149, no. 1 (1998): 87–99. http://dx.doi.org/10.1093/genetics/149.1.87.

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Abstract We have studied whether there is natural genetic variation for mutation frequencies, and whether any such variation is environment-related. Mutation frequencies differed significantly between wild strains of the fungus Sordaria fimicola isolated from a harsher or a milder microscale environment in “Evolution Canyon,” Israel. Strains from the harsher, drier, south-facing slope had higher frequencies of new spontaneous mutations and of accumulated mutations than strains from the milder, lusher, north-facing slope. Collective total mutation frequencies over many loci for ascospore pigmen

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McNatty, K. P., J. L. Juengel, T. Wilson, S. M. Galloway, and G. H. Davis. "Genetic mutations influencing ovulation rate in sheep." Reproduction, Fertility and Development 13, no. 8 (2001): 549. http://dx.doi.org/10.1071/rd01078.

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Ovulation rate in mammals is determined by a complex exchange of endocrine signals between the pituitary gland and the ovary, and by paracrine signals within ovarian follicles between the oocyte and its adjacent somatic cells. One approach to identifying factors regulating ovulation rate is to find mutations that influence the target phenotype and, in this context, sheep are proving to be remarkable experimental models. Recently, in three sheep families, namely Inverdale, Hanna and Booroola, the inherited mutation was mapped to a specific region of the sheep X chromosome (Inverdale, Hanna) or

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Stadler, David, Helen Macleod, and Melanie Loo. "Repair-Resistant Mutation in Neurospora." Genetics 116, no. 2 (1987): 207–14. http://dx.doi.org/10.1093/genetics/116.2.207.

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ABSTRACT Chronic UV treatment produces severalfold fewer mutations in Neurospora conidia than does the same total dose of acute UV. Experiments were designed to determine the conditions required for chronic UV mutagenesis. Measurement of the coincidence frequency for two independent mutations revealed the existence of a subset of cells which are mutable by chronic UV. Analysis of forward mutation at the mtr locus showed that the genetic alterations produced by chronic UV were virtually all point mutants, even though the assay system could detect alterations or deletions extending into neighbor

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Lombardo, Mary-Jane, Ildiko Aponyi, and Susan M. Rosenberg. "General Stress Response Regulator RpoS in Adaptive Mutation and Amplification in Escherichia coli." Genetics 166, no. 2 (2004): 669–80. http://dx.doi.org/10.1093/genetics/166.2.669.

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Abstract Microbial cells under growth-limiting stress can generate mutations by mechanisms distinct from those in rapidly growing cells. These mechanisms might be specific stress responses that increase mutation rates, potentially altering rates of evolution, or might reflect non-stress-specific processes in rare growing cells. In an Escherichia coli model system, both frameshift reversion mutations and gene amplifications occur as apparent starvation-induced mutations. Whereas frameshift reversion (“point mutation”) requires recombination proteins, the SOS response, and error-prone DNA polyme

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Keightley, P. D. "The distribution of mutation effects on viability in Drosophila melanogaster." Genetics 138, no. 4 (1994): 1315–22. http://dx.doi.org/10.1093/genetics/138.4.1315.

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Abstract Parameters of continuous distributions of effects and rates of spontaneous mutation for relative viability in Drosophila are estimated by maximum likelihood from data of two published experiments on accumulation of mutations on protected second chromosomes. A model of equal mutant effects gives a poor fit to the data of the two experiments; higher likelihoods are obtained with leptokurtic distributions or for models in which there is more than one class of mutation effect. Minimum estimates of mutation rates (events per generation) at polygenes affecting viability on chromosome 2 are

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Almeida, Maria Rosário, Miguel Tábuas-Pereira, Inês Baldeiras, et al. "Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia." International Journal of Molecular Sciences 25, no. 1 (2023): 511. http://dx.doi.org/10.3390/ijms25010511.

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In Portugal, heterozygous loss-of-function mutations in the progranulin (GRN) gene account for approximately half of the genetic mediated forms of frontotemporal dementia (FTD). GRN mutations reported thus far cause FTD through a haploinsufficiency disease mechanism. Herein, we aim to unveil the GRN mutation spectrum, investigated in 257 FTD patients and 19 family members from the central/north region of Portugal using sequencing methods. Seven different pathogenic variants were identified in 46 subjects including 40 patients (16%) and 6 relatives (32%). bvFTD was the most common clinical pres

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