DAZ1

DAZ1
Identifiers
Aliases	DAZ1, DAZ, SPGY, deleted in azoospermia 1
External IDs	OMIM: 400003; HomoloGene: 88435; GeneCards: DAZ1; OMA:DAZ1 - orthologs
Gene location (Human) Chr. Y chromosome (human) Band Yq11.223 Start 23,129,355 bp End 23,199,010 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle gonad right testis left testis fundus body of stomach skin of abdomen Achilles tendon skin of leg right lobe of liver n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function translation activator activity protein binding RNA binding nucleic acid binding mRNA binding mRNA 3'-UTR binding Cellular component nucleus cytoplasm intracellular anatomical structure protein-containing complex Biological process multicellular organism development cell differentiation positive regulation of translational initiation spermatogenesis 3'-UTR-mediated mRNA stabilization germ cell development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1617 n/a Ensembl ENSG00000188120 n/a UniProt Q9NQZ3 n/a RefSeq (mRNA) NM_004081 NM_001388496 n/a RefSeq (protein) NP_004072 n/a Location (UCSC) Chr Y: 23.13 – 23.2 Mb n/a PubMed search n/a
Wikidata
View/Edit Human

Deleted in azoospermia 1, also known as DAZ1, is a protein which in humans is encoded by the DAZ1 gene.

Function

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 pre-meiotic 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.

Interactions

DAZ1 has been shown to interact with DAZAP2, DAZL and DAZ associated protein 1.

Further reading

• Foresta C, Ferlin A, Moro E, Marin P, Rossi A, Scandellari C (2002). "[Microdeletion of chromosome Y in male infertility: role of the DAZ gene]". Annali Italiani di Medicina Interna. 16 (2): 82–92. PMID 11688365.
• Fox MS, Reijo Pera RA (Nov 2001). "Male infertility, genetic analysis of the DAZ genes on the human Y chromosome and genetic analysis of DNA repair". Molecular and Cellular Endocrinology. 184 (1–2): 41–9. doi:10.1016/S0303-7207(01)00646-3. PMID 11694340. S2CID 54277826.
• Vogt PH, Fernandes S (Jan 2003). "Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis?". APMIS. 111 (1): 115–26, discussion 126–7. doi:10.1034/j.1600-0463.2003.11101161.x. PMID 12752250. S2CID 41326783.
• Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O (Aug 1995). "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nature Genetics. 10 (4): 383–93. doi:10.1038/ng0895-383. PMID 7670487. S2CID 2917750.
• Reijo R, Seligman J, Dinulos MB, Jaffe T, Brown LG, Disteche CM, Page DC (Jul 1996). "Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty". Genomics. 35 (2): 346–52. doi:10.1006/geno.1996.0366. PMID 8661148.
• Cooke HJ, Lee M, Kerr S, Ruggiu M (Apr 1996). "A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads". Human Molecular Genetics. 5 (4): 513–6. doi:10.1093/hmg/5.4.513. PMID 8845845.
• Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC (Nov 1996). "The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned". Nature Genetics. 14 (3): 292–9. doi:10.1038/ng1196-292. PMID 8896558. S2CID 34964224.
• Yen PH, Chai NN, Salido EC (Dec 1996). "The human autosomal gene DAZLA: testis specificity and a candidate for male infertility". Human Molecular Genetics. 5 (12): 2013–7. doi:10.1093/hmg/5.12.2013. PMID 8968756.
• Menke DB, Mutter GL, Page DC (Jan 1997). "Expression of DAZ, an azoospermia factor candidate, in human spermatogonia". American Journal of Human Genetics. 60 (1): 237–41. PMC 1712565. PMID 8981970.
• Yen PH, Chai NN, Salido EC (Oct 1997). "The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions". Mammalian Genome. 8 (10): 756–9. doi:10.1007/s003359900560. PMID 9321470. S2CID 33258251.
• Agulnik AI, Zharkikh A, Boettger-Tong H, Bourgeron T, McElreavey K, Bishop CE (Sep 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". Human Molecular Genetics. 7 (9): 1371–7. doi:10.1093/hmg/7.9.1371. PMID 9700189.
• Tsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH (May 2000). "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1". Genomics. 65 (3): 266–73. doi:10.1006/geno.2000.6169. PMID 10857750.
• Ruggiu M, Cooke HJ (Jul 2000). "In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein". Gene. 252 (1–2): 119–26. doi:10.1016/S0378-1119(00)00219-5. PMID 10903443.
• Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC (Aug 2000). "Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome". Genomics. 67 (3): 256–67. doi:10.1006/geno.2000.6260. PMID 10936047.
• Reijo RA, Dorfman DM, Slee R, Renshaw AA, Loughlin KR, Cooke H, Page DC (Nov 2000). "DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice". Biology of Reproduction. 63 (5): 1490–6. doi:10.1095/biolreprod63.5.1490. PMID 11058556.
• Moro E, Ferlin A, Yen PH, Franchi PG, Palka G, Foresta C (Nov 2000). "Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome". The Journal of Clinical Endocrinology and Metabolism. 85 (11): 4069–73. doi:10.1210/jcem.85.11.6929. PMID 11095434.
• Xu EY, Moore FL, Pera RA (Jun 2001). "A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans". Proceedings of the National Academy of Sciences of the United States of America. 98 (13): 7414–9. Bibcode:2001PNAS...98.7414Y. doi:10.1073/pnas.131090498. PMC 34683. PMID 11390979.
• Friel A, Houghton JA, Glennon M, Lavery R, Smith T, Nolan A, Maher M (Feb 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". International Journal of Andrology. 25 (1): 59–64. doi:10.1046/j.1365-2605.2002.00326.x. PMID 11869379.