scholarly journals Deleted In Azoospermia-Like

2020 ◽  
Author(s):  
Keyword(s):  
Deleted In Azoospermia

Identification and expression analysis of Dazl homologue in Cynops cyanurus

Zygote ◽  
2021 ◽  
pp. 1-6
Author(s):  
Yinjiao Zhao ◽  
Ya Du ◽  
Qinglan Ge ◽  
Fang Yan ◽  
Shu Wei
Keyword(s):  
Phylogenetic Analysis ◽  
Comparative Studies ◽  
Rna Binding ◽  
Rna Binding Protein ◽  
Rna Recognition Motif ◽  
Rna Recognition ◽  
Specific Expression ◽  
Recognition Motif ◽  
Deleted In Azoospermia ◽  
Specific Expression Pattern

Summary The Dazl (deleted in azoospermia-like) gene encodes an RNA-binding protein containing an RNA recognition motif (RRM) and a DAZ motif. Dazl is essential for gametogenesis in vertebrates. In this study, we report the cloning of Dazl cDNA from Cynops cyanurus. Ccdazl mRNA showed a germline-specific expression pattern as expected. Ccdazl expression gradually decreased during oogenesis, suggesting that it may be involved in oocyte development. Phylogenetic analysis revealed that the Ccdazl protein shares conserved motifs/domains with Dazl proteins from other species. Cloning of Ccdazl provides a new tool to carry out comparative studies of germ cell development in amphibians.

scholarly journals Midkine Promotes Proliferation of Primordial Germ Cells by Inhibiting the Expression of the Deleted in Azoospermia-Like Gene

Endocrinology ◽  
2012 ◽  
Vol 153 (7) ◽  
pp. 3482-3492 ◽  
Author(s):  
Wei Shen ◽  
Bong-Wook Park ◽  
Derek Toms ◽  
Julang Li
Keyword(s):  
Germ Cells ◽  
Primordial Germ Cells ◽  
Deleted In Azoospermia

scholarly journals Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

2020 ◽  
Vol 57 (7) ◽  
pp. 445-453 ◽  
Author(s):  
Mingrong Lv ◽  
Wangjie Liu ◽  
Wangfei Chi ◽  
Xiaoqing Ni ◽  
Jiajia Wang ◽  
...  
Keyword(s):  
Mammalian Cells ◽  
Clinical Manifestations ◽  
Interacting Protein ◽  
Genome Data ◽  
Pathogenic Genes ◽  
Whole Exome ◽  
Exome Aggregation Consortium ◽  
Common Causes ◽  
Deleted In Azoospermia ◽  
The Common

BackgroundAsthenoteratospermia, one of the most common causes for male infertility, often presents with defective sperm heads and/or flagella. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the common clinical manifestations of asthenoteratospermia. Variants in several genes including DNAH1, CEP135, CATSPER2 and SUN5 are involved in the genetic pathogenesis of asthenoteratospermia. However, more than half of the asthenoteratospermia cases cannot be explained by the known pathogenic genes.Methods and resultsTwo asthenoteratospermia-affected men with severe MMAF (absent flagella in >90% spermatozoa) from consanguineous families were subjected to whole-exome sequencing. The first proband had a homozygous missense mutation c.188G>A (p.Arg63Gln) of DZIP1 and the second proband had a homozygous stop-gain mutation c.690T>G (p.Tyr230*). Both of the mutations were neither detected in the human population genome data (1000 Genomes Project, Exome Aggregation Consortium) nor in our own data of a cohort of 875 Han Chinese control populations. DZIP1 encodes a DAZ (a protein deleted in azoospermia) interacting protein, which was associated with centrosomes in mammalian cells. Immunofluorescence staining of the centriolar protein Centrin1 indicated that the spermatozoa of the proband presented with abnormal centrosomes, including no concentrated centriolar dot or more than two centriolar dots. HEK293T cells transfected with two DZIP1-mutated constructs showed reduced DZIP1 level or truncated DZIP1. The Dzip1-knockout mice, generated by the CRSIPR-Cas9, revealed consistent phenotypes of severe MMAF.ConclusionOur study strongly suggests that homozygous DZIP1 mutations can induce asthenoteratospermia with severe MMAF. The deficiency of DZIP1 induces sperm centrioles dysfunction and causes the absence of flagella.

Molecular characterization and SNPs analysis of the porcine Deleted in AZoospermia Like (pDAZL) gene

2009 ◽  
Vol 112 (3-4) ◽  
pp. 415-422 ◽  
Author(s):  
Y.H. Zhang ◽  
S.Q. Mei ◽  
X.W. Peng ◽  
B.Y. Niu ◽  
Z.Q. Ren ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Deleted In Azoospermia

Effects of ten–eleven translocation 1 (Tet1) on DNA methylation and gene expression in chicken primordial germ cells

2019 ◽  
Vol 31 (3) ◽  
pp. 509 ◽  
Author(s):  
Minli Yu ◽  
Dongfeng Li ◽  
Wanyan Cao ◽  
Xiaolu Chen ◽  
Wenxing Du
Keyword(s):  
Gene Expression ◽  
Dna Methylation ◽  
Germ Cells ◽  
Dna Methyltransferase ◽  
Primordial Germ Cells ◽  
Dna Demethylation ◽  
Caveolin 1 ◽  
Expression Of Genes ◽  
Deleted In Azoospermia

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 pluripotency-associated genes (Nanog, PouV and SRY-box 2 (Sox2)) and germ cell-specific genes (caveolin 1 (Cav1), piwi-like RNA-mediated gene silencing 1 (Piwi1) and deleted in azoospermia-like (Dazl)) was upregulated after E5, whereas the expression of genes from the DNA methyltransferase family was decreased. Moreover, the Dazl gene was highly methylated in early PGCs and then gradually hypomethylated. Knockdown of Tet1 showed impaired survival and proliferation of PGCs, as well as increased 5mC levels and reduced 5hmC levels. Further analysis showed that knockdown of Tet1 led to elevated DNA methylation levels of Dazl and downregulated gene expression including Dazl. Thus, this study reveals the dynamic epigenetic reprogramming of chicken PGCs invivo and the molecular mechanism of Tet1 in regulating genomic DNA demethylation and hypomethylation of Dazl during PGC development.

Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection

1999 ◽  
Vol 71 (6) ◽  
pp. 1029-1032 ◽  
Author(s):  
Mau-Chaio Jiang ◽  
Yih-Ron Lien ◽  
Shee-Uan Chen ◽  
Tsang-Ming Ko ◽  
Hong-Nerng Ho ◽  
...  
Keyword(s):  
Intracytoplasmic Sperm Injection ◽  
De Novo ◽  
De Novo Mutations ◽  
Deleted In Azoospermia
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