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Deleted in azoospermia 1

This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: MEN, CAN, POLYMERASE, HAD, BOULE
Papers on DAZ
Mutational landscape of the human Y chromosome-linked genes and loci in patients with hypogonadism.
Ali et al., New Delhi, India. In J Genet, Dec 2015
FISH uncovered mosaicism for SRY, AMELY,DAZ genes and DYZ1 arrays, structural rearrangement for AMELY (31%) and duplication of DAZ (57%) genes.
Novel CARM1-Interacting Protein, DZIP3, Is a Transcriptional Coactivator of Estrogen Receptor-α.
Lee et al., Royal Oak, United States. In Mol Endocrinol, Dec 2015
Here, we have identified an E3 ubiquitin ligase, DAZ (deleted in azoospermia)-interacting protein 3 (DZIP3), as a novel CARM1-binding protein.
Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility.
Yang et al., Nanning, China. In Gene, Nov 2015
This study aims to investigate the effect of the partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility through a comprehensive literature search.
Isoform-Level Gene Expression Profiles of Human Y Chromosome Azoospermia Factor Genes and Their X Chromosome Paralogs in the Testicular Tissue of Non-Obstructive Azoospermia Patients.
Salekdeh et al., Tehrān, Iran. In J Proteome Res, Oct 2015
We profiled the expression of 41 alternative transcripts encoded by 14 AZFa, AZFb, and AZFc region genes (USP9Y, DDX3Y, XKRY, HSFY1, CYORF15A, CYORF15B, KDM5D, EIF1AY, RPS4Y2, RBMY1A1, PRY, BPY2, DAZ1, and CDY1) as well as their X chromosome homologue transcripts and a few autosomal homologues.
Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.
Modi et al., Mumbai, India. In J Assist Reprod Genet, Sep 2015
PURPOSE: The purpose of this study was to determine the association of AZFc subdeletions (gr/gr, b1/b3 and b2/b3) and deletion of DAZ and CDY1 gene copies with male infertility METHODS: Three hundred twelve controls, 172 azoospermic and 343 oligozoospermic subjects were subjected to AZFc subdeletion typing by STS PCR.
Epigenetic regulation of bovine spermatogenic cell-specific gene boule.
Li et al., Nanjing, China. In Plos One, 2014
Non-primate mammals have two deleted azoospermia (DAZ) family genes, DAZL and Boule; genes in this family encode RNA-binding proteins essential for male fertility in diverse animals.
DAZ Family Proteins, Key Players for Germ Cell Development.
Shen et al., Qingdao, China. In Int J Biol Sci, 2014
DAZ family proteins are found almost exclusively in germ cells in distant animal species.
[DAZL and male infertility: an update].
Wang et al., In Zhonghua Nan Ke Xue, 2014
DAZL, a member of the DAZ family, plays a key role in human spermatogenesis.
The roles of DAZL in RNA biology and development.
Pantakani et al., Göttingen, Germany. In Wiley Interdiscip Rev Rna, 2014
The DAZ (Deleted in Azoospermia) family of proteins, which includes DAZ, DAZL, and BOULE, are germ cell-specific RNA-binding proteins that are implicated in translational regulation of several transcripts.
[Testicular CR16 and spermatogenesis].
Xiang et al., Wuhan, China. In Zhonghua Nan Ke Xue, 2012
Research on gene regulation in spermatogenesis has become a hot spot and revealed some spermato-genesis-related genes, such as AYZ, DAZ, YRRM, NOSTRIN, and so on.
Lack of association between DAZ gene methylation patterns and spermatogenic failure.
Wang et al., Nanjing, China. In Clin Chem Lab Med, 2010
The methylation patterns of CpG island (CGI) in the DAZ gene promoter region were different between somatic cells and spermatic cells
Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation.
Reijo Pera et al., Palo Alto, United States. In Nature, 2009
human DAZL (deleted in azoospermia-like) functions in primordial germ-cell formation, whereas closely related genes DAZ and BOULE (also called BOLL) promote later stages of meiosis and development of haploid gametes
Polymorphic expression of DAZ proteins in the human testis.
Paick et al., Seoul, South Korea. In Hum Reprod, 2009
All four DAZ genes are expressed in the human testis, and their products are highly polymorphic among men
Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number.
Rajpert-De Meyts et al., Copenhagen, Denmark. In Hum Reprod, 2008
deletions of two DAZ gene copies are compatible with normal spermatogenesis and fertility.
Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome.
Ali et al., New Delhi, India. In Plos One, 2007
PCR and FISH demonstrated tandem duplication/multiplication of the SRY and DAZ genes in the two Turner Syndrome patients having intact Y chromosome in >85% cells
Y chromosome microdeletions and alterations of spermatogenesis.
Ferlin et al., Padova, Italy. In Endocr Rev, 2001
Deletions in these regions remove one or more of the candidate genes (DAZ, RBMY, USP9Y, and DBY) and cause severe testiculopathy leading to male infertility.
The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis.
Cooke et al., Edinburgh, United Kingdom. In Nature, 1997
RBM and DAZ/SPGY are two families of genes located on the Y chromosome that encode proteins containing RNA-binding motifs, and both have been described as candidate human spermatogenesis genes.
A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome.
Graves et al., Australia. In Nat Genet, 1997
Three genes, RBM1, DAZ and TSPY, map to a small region of the long arm of the human Y chromosome which is deleted in azoospermic men.
The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned.
Page et al., Cambridge, United States. In Nat Genet, 1996
The DAZ gene is a candidate for the human Y-chromosomal Azoospermia Factor (AZF).
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