Deleted in azoospermia protein 2 is a protein that in humans is encoded by the DAZ2gene.
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.
^Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC (Sep 2000). "Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome". Genomics67 (3): 256–67. doi:10.1006/geno.2000.6260. PMID10936047.
Foresta C, Ferlin A, Moro E, et al. (2002). "[Microdeletion of chromosome Y in male infertility: role of the DAZ gene]". Ann. Ital. Med. Int.16 (2): 82–92. PMID11688365.
Fox MS, Reijo Pera RA (2002). "Male infertility, genetic analysis of the DAZ genes on the human Y chromosome and genetic analysis of DNA repair". Mol. Cell. Endocrinol.184 (1–2): 41–9. doi:10.1016/S0303-7207(01)00646-3. PMID11694340.
Reijo R, Lee TY, Salo P, et al. (1995). "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nat. Genet.10 (4): 383–93. doi:10.1038/ng0895-383. PMID7670487.
Saxena R, Brown LG, Hawkins T, et al. (1996). "The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned". Nat. Genet.14 (3): 292–9. doi:10.1038/ng1196-292. PMID8896558.
Yen PH, Chai NN, Salido EC (1997). "The human autosomal gene DAZLA: testis specificity and a candidate for male infertility". Hum. Mol. Genet.5 (12): 2013–7. doi:10.1093/hmg/5.12.2013. PMID8968756.
Yen PH, Chai NN, Salido EC (1997). "The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions". Mamm. Genome8 (10): 756–9. doi:10.1007/s003359900560. PMID9321470.
Habermann B, Mi HF, Edelmann A, et al. (1998). "DAZ (Deleted in AZoospermia) genes encode proteins located in human late spermatids and in sperm tails". Hum. Reprod.13 (2): 363–9. doi:10.1093/humrep/13.2.363. PMID9557839.
Agulnik AI, Zharkikh A, Boettger-Tong H, et al. (1998). "Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations". Hum. Mol. Genet.7 (9): 1371–7. doi:10.1093/hmg/7.9.1371. PMID9700189.
Tsui S, Dai T, Roettger S, et al. (2000). "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1". Genomics65 (3): 266–73. doi:10.1006/geno.2000.6169. PMID10857750.
Reijo RA, Dorfman DM, Slee R, et al. (2000). "DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice". Biol. Reprod.63 (5): 1490–6. doi:10.1095/biolreprod63.5.1490. PMID11058556.
Moro E, Ferlin A, Yen PH, et al. (2000). "Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome". J. Clin. Endocrinol. Metab.85 (11): 4069–73. doi:10.1210/jc.85.11.4069. PMID11095434.
Friel A, Houghton JA, Glennon M, et al. (2002). "A preliminary report on the implication of RT-PCR detection of DAZ, RBMY1, USP9Y and Protamine-2 mRNA in testicular biopsy samples from azoospermic men". Int. J. Androl.25 (1): 59–64. doi:10.1046/j.1365-2605.2002.00326.x. PMID11869379.
Fernandes S, Huellen K, Goncalves J, et al. (2002). "High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia". Mol. Hum. Reprod.8 (3): 286–98. doi:10.1093/molehr/8.3.286. PMID11870237.
Ferlin A, Moro E, Rossi A, Foresta C (2002). "A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men". J. Endocrinol. Invest.25 (1): RC1–3. PMID11883873.