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Journal articles on the topic 'Deleted in azoospermia-like gene'

Author: Grafiati
Published: 2 June 2025
Last updated: 31 July 2025

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1

V.A. Ferandra, V. A. Ferandra, and Sukarjati Sukarjati. "DETEKSI DELESI GEN DAZ (Deleted in AZoospermia) PADA PRIA AZOOSPERMIA DENGAN METODE PCR (Polymerase Chain Reaction)." Medical Technology and Public Health Journal 1, no. 1 (2018): 52–62. http://dx.doi.org/10.33086/mtphj.v1i1.298.

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At this time the case of azoospermia is quite common in infertile men. Azoospermia is a condition where the semen does not contain sperm. Many causes azoospermia, including the deletion of a gene at the locus that is located on the Y chromosome long arm (YQ) known as AZF gene (Azoospermia Factor). One of the genes in the AZF region are genes that AZFc DAZ (Deleted in Azoospermia). The purpose of this study was to detect the presence of the DAZ gene deletions in men with azoospermia cases using PCR (Polymerase Chain Reaction). The study design was descriptive. Venous blood samples with EDTA ant
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Ferandra, V. A., and Sukarjati Sukarjati. "DETEKSI DELESI GEN DAZ (Deleted in AZoospermia) PADA PRIA AZOOSPERMIA DENGAN METODE PCR (Polymerase Chain Reaction)." Medical Technology and Public Health Journal 1, no. 1 (2018): 52–58. http://dx.doi.org/10.33086/mtphj.v1i1.759.

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At this time the case of azoospermia is quite common in infertile men. Azoospermia is a condition where the semen does not contain sperm. Many causes azoospermia, including the deletion of a gene at the locus that is located on the Y chromosome long arm (YQ) known as AZF gene (Azoospermia Factor). One of the genes in the AZF region are genes that AZFc DAZ (Deleted in Azoospermia). The purpose of this study was to detect the presence of the DAZ gene deletions in men with azoospermia cases using PCR (Polymerase Chain Reaction). The study design was descriptive. Venous blood samples with EDTA ant
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3

Zhang, Y. H., S. Q. Mei, X. W. Peng, et al. "Molecular characterization and SNPs analysis of the porcine Deleted in AZoospermia Like (pDAZL) gene." Animal Reproduction Science 112, no. 3-4 (2009): 415–22. http://dx.doi.org/10.1016/j.anireprosci.2008.05.069.

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4

Choi, HeeJi, and Yong-Pil Cheon. "Anatomy and Function of Deleted in Azoospermia Like (DAZL) Gene in Human and Mouse." Development & Reproduction 29, no. 2 (2025): 19–30. https://doi.org/10.12717/dr.2025.29.2.19.

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5

Spaine, Deborah M., Pericles Hassun, Agnaldo P. Cedenho, Valdemar Ortiz, and Miguel Srougi. "1512: Threonine 12 Alanine Mutation of the Deleted-In-Azoospermia-Like Gene in Infertile Brazilian Men with Non-Obstructive Azoospermia." Journal of Urology 173, no. 4S (2005): 409–10. http://dx.doi.org/10.1016/s0022-5347(18)35646-5.

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6

Linher, Katja, Queenie Cheung, Perrin Baker, Gregoy Bedecarrats, Kunio Shiota, and Julang Li. "An epigenetic mechanism regulates germ cell-specific expression of the porcine Deleted in Azoospermia-Like (DAZL) gene." Differentiation 77, no. 4 (2009): 335–49. http://dx.doi.org/10.1016/j.diff.2008.08.001.

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7

Houston, D. W., J. Zhang, J. Z. Maines, S. A. Wasserman, and M. L. King. "A Xenopus DAZ-like gene encodes an RNA component of germ plasm and is a functional homologue of Drosophila boule." Development 125, no. 2 (1998): 171–80. http://dx.doi.org/10.1242/dev.125.2.171.

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We have identified a localized RNA component of Xenopus germ plasm. This RNA, Xdazl (Xenopus DAZ-like), encodes a protein homologous to human DAZ (Deleted in Azoospermia), vertebrate DAZL and Drosophila Boule proteins. Human males deficient in DAZ have few or no sperm and boule mutant flies exhibit complete azoospermia and male sterility. Xdazl RNA was detected in the mitochondrial cloud and vegetal cortex of oocytes. In early embryos, the RNA was localized exclusively in the germ plasm. Consistent with other organisms, Xdazl RNA was also expressed in the spermatogonia and spermatocytes of fro
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8

Teng, Yen-Ni, Yung-Ming Lin, Ying-Hung Lin, et al. "Association of a Single-Nucleotide Polymorphism of the Deleted-in-Azoospermia-Like Gene with Susceptibility to Spermatogenic Failure." Journal of Clinical Endocrinology & Metabolism 87, no. 11 (2002): 5258–64. http://dx.doi.org/10.1210/jc.2002-020016.

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9

Shen, Wei, Bong-Wook Park, Derek Toms, and Julang Li. "Midkine Promotes Proliferation of Primordial Germ Cells by Inhibiting the Expression of the Deleted in Azoospermia-Like Gene." Endocrinology 153, no. 7 (2012): 3482–92. http://dx.doi.org/10.1210/en.2011-1456.

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10

STEFANIDIS, K., D. LOUTRADIS, L. KOUMBI, et al. "Deleted in Azoospermia-Like (DAZL) gene–expressing cells in human amniotic fluid: a new source for germ cells research?" Fertility and Sterility 90, no. 3 (2008): 798–804. http://dx.doi.org/10.1016/j.fertnstert.2007.06.106.

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11

Snider, Paige L., Olga Simmons, and Simon J. Conway. "Cracd Marks the First Wave of Meiosis during Spermatogenesis and Is Mis-Expressed in Azoospermia Mice." Journal of Developmental Biology 8, no. 3 (2020): 21. http://dx.doi.org/10.3390/jdb8030021.

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Testicular development starts in utero and maturation continues postnatally, requiring a cascade of gene activation and differentiation into different cell types, with each cell type having its own specific function. As we had previously reported that the Capping protein inhibiting regulator of actin (Cracd) gene was expressed in the adult mouse testis, herein we examine when and where the β-catenin associated Cracd is initially expressed during postnatal testis development. Significantly, Cracd mRNA is present in both the immature postnatal and adult testis in round spermatid cells, with high
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12

Maiwald, R., R. M. Luche, and C. J. Epstein. "Isolation of a mouse homolog of the human DAZ (Deleted in Azoospermia) gene." Mammalian Genome 7, no. 8 (1996): 628. http://dx.doi.org/10.1007/s003359900292.

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13

Simoni, M., J. Gromoll, B. Dworniczak, et al. "Screening for Deletions of the Y Chromosome Involving the DAZ (Deleted in Azoospermia) Gene in Azoospermia and Severe Oligozoospermia." Journal of Urology 159, no. 2S (1998): 609. http://dx.doi.org/10.1016/s0022-5347(01)63890-4.

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14

Simoni, Manuela, Jörg Gromoll, Bernd Dworniczak, et al. "Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia." Fertility and Sterility 67, no. 3 (1997): 542–47. http://dx.doi.org/10.1016/s0015-0282(97)80083-0.

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15

TATENO, T., I. SASAGAWA, J. ASHIDA, and T. NAKADA. "DELETION OF Y CHROMOSOME INVOLVING THE DAZ (DELETED IN AZOOSPERMIA) GENE IN XX MALES." Archives of Andrology 42, no. 3 (1999): 179–83. http://dx.doi.org/10.1080/014850199262832.

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16

Kim, Byunghyuk, Wonkyung Lee, Kunsoo Rhee, Soo Woong Kim, and Jae-Seung Paick. "Analysis of DAZ gene expression in a partial AZFc deletion of the human Y chromosome." Reproduction, Fertility and Development 26, no. 2 (2014): 307. http://dx.doi.org/10.1071/rd12290.

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The azoospermia factor c (AZFc) region of the Y chromosome consists of repetitive amplicons and is therefore highly susceptible to structural rearrangements, such as deletions and duplications. The b2/b3 deletion is a partial AZFc deletion that is conventionally determined by the selective absence of sY1191 in sequence-tagged site polymerase chain reaction (PCR) and is generally believed to retain two of the four deleted in azoospermia (DAZ) genes on the Y chromosome. In the present study we determined the copy number and expression of DAZ genes in sY1191-negative individuals. Using a DAZ dosa
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17

Yu, Minli, Dongfeng Li, Wanyan Cao, Xiaolu Chen, and Wenxing Du. "Effects of ten–eleven translocation 1 (Tet1) on DNA methylation and gene expression in chicken primordial germ cells." Reproduction, Fertility and Development 31, no. 3 (2019): 509. http://dx.doi.org/10.1071/rd18145.

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Ten–eleven translocation 1 (Tet1) is involved in DNA demethylation in primordial germ cells (PGCs); however, the precise regulatory mechanism remains unclear. In the present study the dynamics of 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) in developing PGCs and the role of Tet1 in PGC demethylation were analysed. Results show that 5mC levels dropped significantly after embryonic Day 4 (E4) and 5hmC levels increased reaching a peak at E5–E5.5. Interestingly, TET1 protein was highly expressed during E5 to E5.5, which showed a consistent trend with 5hmC. The expression of pluripote
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18

Otori, Muneyoshi, Takeshi Karashima, and Masayuki Yamamoto. "The Caenorhabditis elegans Homologue of Deleted in Azoospermia Is Involved in the Sperm/Oocyte Switch." Molecular Biology of the Cell 17, no. 7 (2006): 3147–55. http://dx.doi.org/10.1091/mbc.e05-11-1067.

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The Deleted in Azoospermia (DAZ) gene family encodes putative translational activators that are required for meiosis and other aspects of gametogenesis in animals. The single Caenorhabditis elegans homologue of DAZ, daz-1, is an essential factor for female meiosis. Here, we show that daz-1 is important for the switch from spermatogenesis to oogenesis (the sperm/oocyte switch), which is an essential step for the hermaphrodite germline to produce oocytes. RNA interference of the daz-1 orthologue in a related nematode, Caenorhabditis briggsae, resulted in a complete loss of the sperm/oocyte switc
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19

Fayez, Alaaeldin Gamal, Amr Saad El-Sayed, Mohamed Ali El-Desouky, et al. "Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility." International Journal of Infertility & Fetal Medicine 3, no. 3 (2012): 69–77. http://dx.doi.org/10.5005/jp-journals-10016-1045.

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ABSTRACT Men with severe infertility suffer a high risk of Y chromosome deletion, hence screening for these cases is recommended prior to treatment with assisted reproduction. Our study aimed to investigate and detect the azoospermia factor (AZF) region deletion, rearrangement and deleted azoospermia (DAZ) gene copy number variations in Egyptian azoospermic infertile men. This was tested on 54 Egyptian nonobstructive azoospermic (NOA) infertile men, with age ranged from 21 to 45 years (mean: 31.4 ± 6.1 years), by STS ± multiplex PCR using a set of 14 sequence tagged sites (STSs) from three dif
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20

Yuan, Zehu, Jing Luo, Li Wang, Fadi Li, Wanhong Li, and Xiangpeng Yue. "Expression of DAZL Gene in Selected Tissues and Association of Its Polymorphisms with Testicular Size in Hu Sheep." Animals 10, no. 4 (2020): 740. http://dx.doi.org/10.3390/ani10040740.

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The deleted in azoospermia-like (DAZL) gene encoding an RNA binding protein is pivotal in gametogenesis in lots of species and also acts as a pre-meiosis marker. The current study was conducted to detect expression profiles and single nucleotide polymorphisms (SNPs) of DAZL in sheep using qPCR, DNA-pooled sequencing, improved multiplex ligase detection reaction (iMLDR®) and restriction fragment length polymorphism (RFLP) methods. The results confirmed that ovine DAZL showed the highest expression level at six-months of age across five developmental stage. At six-month stage, DAZL expressed pri
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Karashima, T., A. Sugimoto, and M. Yamamoto. "Caenorhabditis elegans homologue of the human azoospermia factor DAZ is required for oogenesis but not for spermatogenesis." Development 127, no. 5 (2000): 1069–79. http://dx.doi.org/10.1242/dev.127.5.1069.

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DAZ (Deleted in Azoospermia), the putative azoospermia factor gene in human, encodes a ribonucleoprotein-type RNA-binding protein required for spermatogenesis. A Drosophila homologue of DAZ, called boule, is also essential for spermatogenesis. A mouse homologue, Dazla, is implicated in both spermatogenesis and oogenesis. Here, we report the identification and characterization of daz-1, the single DAZ homologue in the nematode Caenorhabditis elegans. Loss of daz-1 function caused sterility in hermaphrodites, by blocking oogenesis at the pachytene stage of meiosis I. Epistasis analysis suggested
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22

Brook, Matthew, Joel W. S. Smith, and Nicola K. Gray. "The DAZL and PABP families: RNA-binding proteins with interrelated roles in translational control in oocytes." REPRODUCTION 137, no. 4 (2009): 595–617. http://dx.doi.org/10.1530/rep-08-0524.

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Gametogenesis is a highly complex process that requires the exquisite temporal, spatial and amplitudinal regulation of gene expression at multiple levels. Translational regulation is important in a wide variety of cell types but may be even more prevalent in germ cells, where periods of transcriptional quiescence necessitate the use of post-transcriptional mechanisms to effect changes in gene expression. Consistent with this, studies in multiple animal models have revealed an essential role for mRNA translation in the establishment and maintenance of reproductive competence. While studies in h
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23

Ramos-Ibeas, Priscila, Eva Pericuesta, Raúl Fernández-González, Alfonso Gutiérrez-Adán, and Miguel Ángel Ramírez. "Characterisation of the deleted in azoospermia like (Dazl)–green fluorescent protein mouse model generated by a two-step embryonic stem cell-based strategy to identify pluripotent and germ cells." Reproduction, Fertility and Development 28, no. 11 (2016): 1741. http://dx.doi.org/10.1071/rd14253.

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The deleted in azoospermia like (Dazl) gene is preferentially expressed in germ cells; however, recent studies indicate that it may have pluripotency-related functions. We generated Dazl–green fluorescent protein (GFP) transgenic mice and assayed the ability of Dazl-driven GFP to mark preimplantation embryo development, fetal, neonatal and adult tissues, and in vitro differentiation from embryonic stem cells (ESCs) to embryoid bodies (EBs) and to primordial germ cell (PGC)-like cells. The Dazl-GFP mice were generated by a two-step ESC-based strategy, which enabled primary and secondary screeni
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Vaszkó, Tibor, János Papp, Csilla Krausz, Elena Casamonti, Lajos Géczi, and Edith Olah. "Discrimination of Deletion and Duplication Subtypes of the Deleted in Azoospermia Gene Family in the Context of Frequent Interloci Gene Conversion." PLOS ONE 11, no. 10 (2016): e0163936. http://dx.doi.org/10.1371/journal.pone.0163936.

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25

Williams, Patrick A., Michael S. Krug, Emily A. McMillan, et al. "Phosphorylation of the RNA-binding protein Dazl by MAPKAP kinase 2 regulates spermatogenesis." Molecular Biology of the Cell 27, no. 15 (2016): 2341–50. http://dx.doi.org/10.1091/mbc.e15-11-0773.

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Developing male germ cells are exquisitely sensitive to environmental insults such as heat and oxidative stress. An additional characteristic of these cells is their unique dependence on RNA-binding proteins for regulating posttranscriptional gene expression and translational control. Here we provide a mechanistic link unifying these two features. We show that the germ cell–specific RNA-binding protein deleted in azoospermia-like (Dazl) is phosphorylated by MAPKAP kinase 2 (MK2), a stress-induced protein kinase activated downstream of p38 MAPK. We demonstrate that phosphorylation of Dazl by MK
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Iyer, Harini, Melanie Issigonis, Prashant P. Sharma, Cassandra G. Extavour, and Phillip A. Newmark. "A premeiotic function for boule in the planarian Schmidtea mediterranea." Proceedings of the National Academy of Sciences 113, no. 25 (2016): E3509—E3518. http://dx.doi.org/10.1073/pnas.1521341113.

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Mutations in Deleted in Azoospermia (DAZ), a Y chromosome gene, are an important cause of human male infertility. DAZ is found exclusively in primates, limiting functional studies of this gene to its homologs: boule, required for meiotic progression of germ cells in invertebrate model systems, and Daz-like (Dazl), required for early germ cell maintenance in vertebrates. Dazl is believed to have acquired its premeiotic role in a vertebrate ancestor following the duplication and functional divergence of the single-copy gene boule. However, multiple homologs of boule have been identified in some
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González, Candela Rocío, Luciana Moverer, Ricardo Saúl Calandra, Silvia Inés González-Calvar, and Alfredo Daniel Vitullo. "Age-related and photoperiodic variation of the DAZ gene family in the testis of the Syrian hamster (Mesocricetus auratus)." Zygote 26, no. 2 (2018): 127–34. http://dx.doi.org/10.1017/s0967199418000023.

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SummaryThe Deleted in AZoospermia (DAZ) gene family regulates the development, maturation and maintenance of germ cells and spermatogenesis in mammals. The DAZ family consists of two autosomal genes, Boule and Dazl (Daz-like), and the Daz gene on chromosome Y. The aim of this study was to analyze the localization of DAZL and BOULE during testicular ontogeny of the seasonal-breeding Syrian hamster, Mesocricetus auratus. We also evaluated the testicular expression of DAZ family genes under short- or long-photoperiod conditions. In the pre-pubertal and adult testis, DAZL protein was found mainly
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28

Sukarjati, Nanis Choirunnisa, and Nur Syamsiatul Fajar. "The Impact of Smoking on Sperm Quality and the DAZ Gene." Jurnal Penelitian Pendidikan IPA 10, no. 11 (2024): 8712–24. https://doi.org/10.29303/jppipa.v10i11.9213.

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Indonesia's male population is mostly smokers. The chemical content in cigarettes can reduce the quality of spermatogenesis, where spermatogenesis is influenced by the DAZ gene (deleted in Azoospermia). This study aims to analyze sperm quality in light, moderate, and heavy smokers in 3 age groups and analyze the presence of the DAZ gene in heavy smokers. This study used 180 samples divided into three age groups, namely men aged 26-30 years, 31-35 years, and 36-40 years. Each age group recorded the number of cigarettes consumed per day (light, moderate, and heavy smokers) and examined the quali
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Tumini, Stefano, Melissa Alfonsi, Silvia Carinci, et al. "Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?" Cytogenetic and Genome Research 158, no. 3 (2019): 121–25. http://dx.doi.org/10.1159/000501601.

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VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, and limb defects. No genetic alterations have been discovered except for some sporadic chromosomal rearrangements and gene mutations. We report a boy with VACTERL association and shawl scrotum with bifid scrotum who presented with a de novo Yq11.223q11.23 microdeletion identified by array CGH. The deletion spans 3.1 Mb and encompasses several genes in the AZFc region, frequently deleted in
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30

Grossmann, B., G. Weinbauer, P. Hirschmann, and P. H. Vogt. "Conservation of the deleted-in-azoospermia-like-1 (DAZL1) gene structure in old world monkeys points to a homologous function of DAZL1 in this primate class." Journal of Endocrinological Investigation 23, no. 9 (2000): 616–22. http://dx.doi.org/10.1007/bf03343785.

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Choi, Yeonju, Youngwook Jung, Seongmin Kim, Junyoung Kim, Heejun Jung, and Minjung Yoon. "Stage-Dependent Expression of Protein Gene Product 9.5 in Donkey Testes." Animals 10, no. 11 (2020): 2169. http://dx.doi.org/10.3390/ani10112169.

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Molecular markers can be used to identify and isolate specific developmental stages of germ cells and Leydig cells. Protein gene product (PGP)9.5 expression in spermatogonia and Leydig cells has been reported in several species. The stages of spermatogonia and Leydig cells expressing PGP9.5 vary depending on the species and reproductive stages. Thus, the objectives of this study were (1) to identify the localization of PGP9.5 in donkey testicular cells, and (2) to compare the expression patterns of PGP9.5 in donkey testicular cells between pre- and post-pubertal stages. Testes samples were col
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32

Chen, H. T., C. B. Alexander, and R. G. Mage. "Characterization of a rabbit germ-line VH gene that is a candidate donor for VH gene conversion in mutant Alicia rabbits." Journal of Immunology 154, no. 12 (1995): 6365–71. http://dx.doi.org/10.4049/jimmunol.154.12.6365.

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Abstract Normal rabbits preferentially rearrange the 3'-most VH gene, VH1, to encode Igs with VHa allotypes, which constitute the majority of rabbit serum Igs. A gene conversion-like mechanism is employed to diversify the primary Ab repertoire. In mutant Alicia rabbits that derived from a rabbit with VHa2 allotype, the VH1 gene was deleted. Our previous studies showed that the first functional gene (VH4) or VH4-like genes were rearranged in 2- to 8-wk-old homozygous Alicia. The VH1a2-like sequences that were found in splenic mRNA from 6-wk and older Alicia rabbits still had some residues that
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Guzeloglu-Kayisli, Ozlem, Maria D. Lalioti, Fulya Aydiner, et al. "Embryonic poly(A)-binding protein (EPAB) is required for oocyte maturation and female fertility in mice." Biochemical Journal 446, no. 1 (2012): 47–58. http://dx.doi.org/10.1042/bj20120467.

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Gene expression during oocyte maturation and early embryogenesis up to zygotic genome activation requires translational activation of maternally-derived mRNAs. EPAB [embryonic poly(A)-binding protein] is the predominant poly(A)-binding protein during this period in Xenopus, mouse and human. In Xenopus oocytes, ePAB stabilizes maternal mRNAs and promotes their translation. To assess the role of EPAB in mammalian reproduction, we generated Epab-knockout mice. Although Epab−/− males and Epab+/− of both sexes were fertile, Epab−/− female mice were infertile, and could not generate embryos or matur
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Liebl, Magdalena C., Jutta Moehlenbrink, Huong Becker, et al. "DAZAP2 acts as specifier of the p53 response to DNA damage." Nucleic Acids Research 49, no. 5 (2021): 2759–76. http://dx.doi.org/10.1093/nar/gkab084.

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Abstract The DNA damage-responsive tumor suppressors p53 and HIPK2 are well established regulators of cell fate decision-making and regulate the cellular sensitivity to DNA-damaging drugs. Here, we identify Deleted in Azoospermia-associated protein 2 (DAZAP2), a small adaptor protein, as a novel regulator of HIPK2 and specifier of the DNA damage-induced p53 response. Knock-down or genetic deletion of DAZAP2 strongly potentiates cancer cell chemosensitivity both in cells and in vivo using a mouse tumour xenograft model. In unstressed cells, DAZAP2 stimulates HIPK2 polyubiquitination and degrada
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Wang, Lijuan, Jiaxin Sun, Zhipeng Liu, Qiang Zheng, and Guojun Wang. "Comparison of Multiple Strategies for Precision Transgene Knock-In in Gallus gallus Genome via Microhomology-Mediated End Joining." International Journal of Molecular Sciences 24, no. 21 (2023): 15731. http://dx.doi.org/10.3390/ijms242115731.

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Precision exogenous gene knock-in is an attractive field for transgenic Gallus gallus (chicken) generation. In this article, we constructed multiple Precise Integration into Target Chromosome (PITCh) plasmid systems mediated by microhomology-mediated end-joining (MMEJ) for large-fragment integration in DF-1 cells and further assess the possibility of GAPDH (glyceraldehyde-3-phosphate dehydrogenase) as a genomic safe harbor for chickens. We designed three targeted sgRNAs for the all-in-one plasmid at the 3′UTR of GAPDH near the stop codon. The donor-plasmid-carrying microhomology arms correspon
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36

Calogero, A. E., M. R. Garofalo, N. Barone, et al. "Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene." Journal of Endocrinological Investigation 25, no. 7 (2002): 631–34. http://dx.doi.org/10.1007/bf03345088.

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37

Barnabas, Linda C., Anbu Sumathy, Muthuswamy A. Indumathi, et al. "Localization of the SRY Gene on Chromosome 3 in a Patient with Azoospermia and a Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/ 47,XX,i(Y)(q10)." Cytogenetic and Genome Research 156, no. 3 (2018): 134–39. http://dx.doi.org/10.1159/000494464.

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This study aimed to identify the cause of azoospermia in a 38-year-old infertile man who was referred for genetic testing. Cytogenetic evaluation was performed by G-banding, C-banding, and FISH using centromeric probes for chromosomes X and Y and showed the presence of a monocentric isochromosome Y with a complex, mosaic karyotype 45,X/46,X,i(Y)(q10)/46,XX/47,XX,i(Y)(q10). Multiplex PCR for the commonly deleted genes in the AZFa, AZFb, and AZFc regions of the Y chromosome was performed and indicated the presence of all 3 regions. Further, PCR amplification followed by DNA sequencing of the SRY
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38

Gromoll, J. "The old world monkey DAZ (Deleted in AZoospermia) gene yields insights into the evolution of the DAZ gene cluster on the human Y chromosome." Human Molecular Genetics 8, no. 11 (1999): 2017–24. http://dx.doi.org/10.1093/hmg/8.11.2017.

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39

Gonos, E. S., and J. P. Goddard. "The role of the 5′-flanking sequence of a human tRNAGlu gene in modulation of its transcriptional activity in vitro." Biochemical Journal 272, no. 3 (1990): 797–803. http://dx.doi.org/10.1042/bj2720797.

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The role of a tRNA-like structure within the 5′-flanking sequence of a human tRNA(Glu) gene in the modulation of its transcription in vitro by HeLa cell extracts has been investigated using several deletion mutants of a recombinant of the gene which lacked part or all of the tRNA-like structure. The transcriptional efficiency of four mutants was the same as that of the wild-type recombinant, two mutants had decreased transcriptional efficiency, one was more efficient, and one, lacking part of the 5′ intragenic control region, was inactive. Correlation of the transcriptional efficiencies with t
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40

Sato, Hajime, Hiroshi Tomita, Toru Nakazawa, Shigeharu Wakana, and Makoto Tamai. "Deleted in Polyposis 1-like 1 Gene (Dp1l1): A Novel Gene Richly Expressed in Retinal Ganglion Cells." Investigative Opthalmology & Visual Science 46, no. 3 (2005): 791. http://dx.doi.org/10.1167/iovs.04-0867.

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41

Piccini, Monica, Francesca Vitelli, Marco Seri, et al. "KCNE1-like Gene Is Deleted in AMME Contiguous Gene Syndrome: Identification and Characterization of the Human and Mouse Homologs." Genomics 60, no. 3 (1999): 251–57. http://dx.doi.org/10.1006/geno.1999.5904.

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42

Suemori, H., S. Hashimoto, and N. Nakatsuji. "Presence of the adenovirus E1A-like activity in preimplantation stage mouse embryos." Molecular and Cellular Biology 8, no. 8 (1988): 3553–55. http://dx.doi.org/10.1128/mcb.8.8.3553-3555.1988.

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The presence of the adenovirus E1A-like activity in embryonal carcinoma stem cells has been reported. We now show that preimplantation stage mouse embryonic cells allow transcription of the E1A-dependent E2A gene when infected with E1A-deleted mutant dl312, indicating the presence of the E1A-like activity in morulae and blastocysts. Moreover, such activity seems to decrease or disappear at about the time of implantation.
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43

Suemori, H., S. Hashimoto, and N. Nakatsuji. "Presence of the adenovirus E1A-like activity in preimplantation stage mouse embryos." Molecular and Cellular Biology 8, no. 8 (1988): 3553–55. http://dx.doi.org/10.1128/mcb.8.8.3553.

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The presence of the adenovirus E1A-like activity in embryonal carcinoma stem cells has been reported. We now show that preimplantation stage mouse embryonic cells allow transcription of the E1A-dependent E2A gene when infected with E1A-deleted mutant dl312, indicating the presence of the E1A-like activity in morulae and blastocysts. Moreover, such activity seems to decrease or disappear at about the time of implantation.
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44

Roy, Soumitra, David S. Clawson, Virginie S. Adam, Angelica Medina, and James M. Wilson. "Construction of gene transfer vectors based on simian adenovirus 7." Journal of General Virology 92, no. 8 (2011): 1749–53. http://dx.doi.org/10.1099/vir.0.032300-0.

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The complete nucleotide sequence of an isolate of simian adenovirus 7 (SAdV-7) was determined. The genome organization of this isolate was found to be similar to that of other primate adenoviruses with two principal notable points: severe truncation of the E1A and E1B 19K proteins and an E3 region encoding only the 12.5K homologue. The viral gene products of SAdV-7 are most closely related to simian adenovirus 1 (SAdV-1), and like SAdV-1, are related to the human adenovirus species HAdV-F, such as the enteric adenoviruses HAdV-40 and HAdV-41 and the recently defined HAdV-G (HAdV-52). Two kinds
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45

Helmer, Rebecca A., Raul Martinez-Zaguilan, Gurvinder Kaur, Lisa A. Smith, Jannette M. Dufour, and Beverly S. Chilton. "Helicase-like transcription factor-deletion from the tumor microenvironment in a cell line-derived xenograft model of colorectal cancer reprogrammed the human transcriptome-S-nitroso-proteome to promote inflammation and redirect metastasis." PLOS ONE 16, no. 5 (2021): e0251132. http://dx.doi.org/10.1371/journal.pone.0251132.

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Methylation of the HLTF gene in colorectal cancer (CRC) cells occurs more frequently in men than women. Progressive epigenetic silencing of HLTF in tumor cells is accompanied by negligible expression in the tumor microenvironment (TME). Cell line-derived xenografts (CDX) were established in control (Hltf+/+) and Hltf-deleted male Rag2-/-IL2rg-/- mice by direct orthotopic cell microinjection (OCMI) of HLTF+/+HCT116 Red-FLuc cells into the submucosa of the cecum. Combinatorial induction of IL6 and S100A8/A9 in the Hltf-deleted TME with ICAM-1 and IL8 in the primary tumor activated a positive fee
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46

Zimmermann, Stephan, Anja Schwärzler, Sabine Buth, Wolfgang Engel, and Ibrahim M. Adham. "Transcription of the Leydig Insulin-Like Gene Is Mediated by Steroidogenic Factor-1." Molecular Endocrinology 12, no. 5 (1998): 706–13. http://dx.doi.org/10.1210/mend.12.5.0107.

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Abstract The Leydig insulin-like gene (Ley I-L), a member of the insulin-related gene family, is specifically expressed in pre- and postnatal Leydig cells of the testis and in postnatal theca cells of the ovary. To determine the functional region of the mouse Ley I-L promoter and factors controlling the Ley I-L gene expression, we used 2.1 kb of the 5′-flanking region of the mouse Ley I-L gene to generate chimeric constructs with the chloramphenicol acetyltransferase gene (CAT). Transient transfections of MA10 Leydig cells, LTK− fibroblasts, and F9 embryonic cells by a series of 5′-deleted mou
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Yang, Yang, Mingxu Zhou, Huayan Hou, et al. "Quorum-sensing gene luxS regulates flagella expression and Shiga-like toxin production in F18ab Escherichia coli." Canadian Journal of Microbiology 60, no. 6 (2014): 355–61. http://dx.doi.org/10.1139/cjm-2014-0178.

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To investigate the effect of the luxS gene on the expression of virulence factors in Shiga-like toxin producing and verotoxin-producing Escherichia coli, the luxS gene from E. coli 107/86 (wild type, O139:H1:F18ab, Stx2e) was deleted. The successful deletion of luxS was confirmed by bioluminescence assays. The luxS deletion mutant exhibited changed flagella-related phenotypes, like impaired expression of flagella, decreased flagella motility, reduced biofilm formation, and reduced ability to induce pro-immunity response in host cells, which were restored after complementation with the intact l
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48

Marston, Nicola J., William J. Richards, David Hughes, David Bertwistle, Christopher J. Marshall, and Alan Ashworth. "Interaction between the Product of the Breast Cancer Susceptibility Gene BRCA2 and DSS1, a Protein Functionally Conserved from Yeast to Mammals." Molecular and Cellular Biology 19, no. 7 (1999): 4633–42. http://dx.doi.org/10.1128/mcb.19.7.4633.

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ABSTRACT Germ line mutations in the breast cancer susceptibility geneBRCA2 predispose to early-onset breast cancer, but the function of the nuclear protein encoded by the gene is ill defined. Using the yeast two-hybrid system with fragments of humanBRCA2, we identified an interaction with the humanDSS1 (deleted in split hand/split foot) gene. Yeast and mammalian two-hybrid assays showed that DSS1 can associate with BRCA2 in the region of amino acids 2472 to 2957 in the C terminus of the protein. Using coimmunoprecipitation of epitope-taggedBRCA2 and DSS1 cDNA constructs transiently expressed i
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49

Le, Tram Thi Huynh, Nhan Thy Le, Tien Thi Thuy Nguyen, Duong Thi Thuy Nguyen, and Dong Xuan Nguyen. "Construction of the Aspergillus nidulans pmtC∆hogA∆yA∆ triple deletion strain by mating and benlate inducing." HO CHI MINH CITY OPEN UNIVERSITY JOURNAL OF SCIENCE - ENGINEERING AND TECHNOLOGY 14, no. 2 (2024): 28–38. http://dx.doi.org/10.46223/hcmcoujs.tech.en.14.2.3208.2024.

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In Aspergillus nidulans, construction of double or triple deletion strain is widely carried out to investigate genetic coordination, relation, or interaction. In this study, a fungal mutant, in which pmtC, hogA, and yA are deleted, is constructed for a recent experimental purpose. The mutation strain is screened and isolated by auxotrophic mutations from progenies of a sexual mating between the two A. nidulans fungi, pmtC∆yA∆ deletion strain and hogA∆ deletion strain. The genotype of the strain obtained from the matting is confirmed by PCR indicating that the obtained strain contains deleted h
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50

Kamiński, Piotr, Jędrzej Baszyński, Izabela Jerzak, et al. "External and Genetic Conditions Determining Male Infertility." International Journal of Molecular Sciences 21, no. 15 (2020): 5274. http://dx.doi.org/10.3390/ijms21155274.

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We explain environmental and genetic factors determining male genetic conditions and infertility and evaluate the significance of environmental stressors in shaping defensive responses, which is used in the diagnosis and treatment of male infertility. This is done through the impact of external and internal stressors and their instability on sperm parameters and their contribution to immunogenetic disorders and hazardous DNA mutations. As chemical compounds and physical factors play an important role in the induction of immunogenetic disorders and affect the activity of enzymatic and non-enzym
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