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Deleted in azoospermia 2

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 one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: DAZ, MEN, POLYMERASE, HAD, OUT
Papers on DAZ2
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.
Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men.
Ammar-Keskes et al., Sfax, Tunisia. In Gene, 2014
having only three DAZ gene copies (DAZ1/DAZ2/DAZ3 or DAZ1/DAZ3/DAZ4 variants); so deletion of DAZ2 or DAZ4 were frequent both in infertile (36.5% and 37.3%, respectively) and fertile groups (33.9% and 44.3%, respectively) and removing DAZ4 copy was significantly more frequent in oligospermic than in normospermic men (p=0.04) in infertile group.
An EAR-Dependent Regulatory Module Promotes Male Germ Cell Division and Sperm Fertility in Arabidopsis.
Twell et al., Leicester, United Kingdom. In Plant Cell, 2014
Here, we identify an essential role for two germline-specific DUO1 target genes, DAZ1 and DAZ2, which encode EAR motif-containing C2H2-type zinc finger proteins.
Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population.
Yin et al., Nanjing, China. In World J Urol, 2013
DAZ-SNV loci analysis revealed 4 DAZ copies that had 8 gr/gr-DAZ3/DAZ4 deletions and 1 gr/gr-DAZ1/DAZ2 deletion in the fertile men (8/190 vs. 1/190, p = 0.037).
Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case-control study.
Castro et al., Santiago, Chile. In J Assist Reprod Genet, 2013
The AZFc-partial deletions were mainly associated with the absence of DAZ1/DAZ2 (64 %).
[Association of gr/gr deletion in the AZFc region of Y chromosome with male infertility: a meta-analysis].
Ren et al., Chengdu, China. In Zhonghua Nan Ke Xue, 2011
Eight studies showed a significant association between the gr/gr deletion subtype without DAZ1/DAZ2 gene copies and spermatogenic impairment (OR = 1.83, 95% CI: 1.31 - 2.55) (P = 0.000 4), but no statistically significant differences were found in the frequency distribution of the gr/gr deletion subtype missing DAZ3/DAZ4 gene copies between the patients and controls (OR = 1.43, 95% CI: 0.97 -2.11) (P = 0.07).
[Sequence tagged sites of AZFc microdeletion in Chinese Han population].
Feng et al., Shanghai, China. In Zhonghua Nan Ke Xue, 2011
Deletion of sY1206 and DAZ3/DAZ4 copies was confirmed in 1 case of severe oligozoospermia with sY157 absent only.
Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients.
Husain et al., India. In Eur J Hum Genet, 2011
Seven patients each with spermatogenic arrest and oligospermia who carry gr/gr subdeletions have deleted DAZ3/DAZ4 genes.
Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population.
Zhang et al., China. In Int J Androl, 2010
In the 6 gr/gr copy deletion haplotypes, the frequencies of DAZ1/DAZ2+CDY1a or CDY1b deletion were significantly higher in men with azoo/oligozoospermia, while all DAZ3/DAZ4+CDY1b+BPY2.2 or 2.3 deletions were found only in haplogroup Q1 without any distribution difference between the azoo/oligozoospermic and normozoospermic groups.
[Partial AZfc region deletions of the Y chromosome in spermatogenic dysfunction patients].
Zeng et al., Fuzhou, China. In Zhonghua Nan Ke Xue, 2010
SNV analysis showed DAZ1/DAZ2 deletion in all those with gr/gr and those with b1/b3 deletion, DAZ3/DAZ4 deletion in those with b2/b3 deletion, and DAZ-SNV sY587 deletion in 1 case of sY1291, sY1197 deletion, but no DAZ deletion was found in 1 case of b1/b2 deletion.
[Breakpoint localization of Y-chromosome massive deletions in 49 spermatogenesis dysfunction patients].
Zhu et al., Fuzhou, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2009
In 3 cases with deletions in AZFb, 1 case showed P5/P3 deletion and 2 cases showed P5/proximal-P1 recombination with DAZ1 and DAZ2 deletions.
Y-chromosome AZFc structural architecture and relationship to male fertility.
McElreavey et al., Paris, France. In Fertil Steril, 2009
MAIN OUTCOME MEASURE(S): DAZ gene cluster divided into two families (DAZ1/2 and DAZ3/4), CDY1 gene, and Y-chromosome haplogroups.
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
The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population.
Wang et al., Nanjing, China. In Hum Mol Genet, 2009
We found that both the b2/b3 partial deletion and the DAZ3/4+CDY1a deletion pattern were associated with spermatogenic failure.
AZFc partial deletions in Chilean men with severe spermatogenic failure.
Castro et al., Santiago, Chile. In Fertil Steril, 2007
AZFc subdeletions do not seem to cause severe impairment of spermatogenesis in Chilean men.
A physical analysis of the Y chromosome shows no additional deletions, other than Gr/Gr, associated with testicular germ cell tumour.
Rapley et al., United Kingdom. In Br J Cancer, 2007
Three markers showed evidence of deletions, sY1291, indicative of 'gr/gr' (eight out of 271; 2.9%), Y-DAZ3 contained within 'gr/gr' (21 out of 271; 7.7%) and a single deletion of the marker G66152 was identified in one TGCT case.
A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N.
Vogt et al., Heidelberg, Germany. In Am J Hum Genet, 2004
a common variant of the human Y chromosome lacks the DAZ3/DAZ4 and BPY2.2/BPY2.3 doublets in distal AZFc and thus these genes cannot be required for male fertility
A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men.
Foresta et al., Padova, Italy. In J Endocrinol Invest, 2002
DAZ gene copy number in severely idiopathic infertile men. Gene deletion of two copies of DAZ (DAZI and 2) was the cause of spermatogenic damage.
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