DAZ3

DAZ3
Identifiers
Aliases	DAZ3 , pDP1679, deleted in azoospermia 3
External IDs	OMIM: 400027 HomoloGene: 133282 GeneCards: DAZ3
Gene location (Human)
Chr.	Y chromosome (human)
End	24,813,492 bp
RNA expression pattern
	Top expressed in
	fundus; ; body of stomach; ; reproductive system; ; reproductive organ; ; gonad; ; male reproductive system; ; testicle;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	RNA binding ; nucleic acid binding ; translation activator activity ; protein binding ; mRNA binding ; mRNA 3'-UTR binding ;
Cellular component	nucleus ; cytoplasm ; intracellular anatomical structure ; protein-containing complex ;
Biological process	multicellular organism development ; cell differentiation ; spermatogenesis ; positive regulation of translational initiation ; 3'-UTR-mediated mRNA stabilization ; germ cell development ;
	Sources:Amigo / QuickGO
Orthologs
	57054
	n/a
	ENSG00000187191
	n/a
	Q9NR90
	n/a
	NM_020364
	n/a
	NP_065097
	n/a
	Wikidata
View/Edit Human

Last updated January 30, 2023

Deleted in azoospermia protein 3 is a protein that in humans is encoded by the DAZ3 gene.^[3]^[4]

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.^[4]

Related Research Articles

Y linkage, also known as holandric inheritance, describes traits that are produced by genes located on the Y chromosome. It is a form of sex linkage.

Azoospermia factor (AZF) is one of several proteins or their genes, which are coded from the AZF region on the human male Y chromosome. Deletions in this region are associated with inability to produce sperm. Subregions within the AZF region are AZFa, AZFb and AZFc. AZF microdeletions are one of the major causes of male infertility for azoospermia and severe oligozoospermia males. AZF is the term used by the HUGO Gene Nomenclature Committee.

Deleted in azoospermia-like is a protein that in humans is encoded by the DAZL gene.

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

Ubiquitin specific peptidase 9, Y-linked , also known as USP9Y, is an enzyme which in humans is encoded by the USP9Y gene. It is required for sperm production. This enzyme is a member of the peptidase C19 family and is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins.

Deleted in azoospermia protein 2 is a protein that in humans is encoded by the DAZ2 gene.

DAZ-associated protein 1 is a protein that in humans is encoded by the DAZAP1 gene.

Pumilio homolog 2 is an RNA-binding protein that in humans is encoded by the PUM2 gene.

Quaking homolog, KH domain RNA binding (mouse), also known as QKI, is a protein which in humans is encoded by the QKI gene.

RNA-binding motif protein, Y chromosome, family 1 member A1/C is a protein that in humans is encoded by the RBMY1A1 gene.

ATP-dependent RNA helicase DDX3Y is an enzyme that in humans is encoded by the DDX3Y gene.

Testis-specific chromodomain protein Y 1 is a protein that in humans is encoded by the CDY1 gene.

Protein boule-like is a protein that in humans is encoded by the BOLL gene.

DAZ-associated protein 2 is a protein that in humans is encoded by the DAZAP2 gene.

Serine/threonine-protein kinase MAK is an enzyme that in humans is encoded by the MAK gene.

Zinc finger protein DZIP1 is a protein that in humans is encoded by the DZIP1 gene.

Variable charge X-linked protein 1 is a protein that in humans is encoded by the VCX gene.

Testis-specific basic protein Y 2 also known as basic charge, Y-linked 2 is a protein that in humans is encoded by the BPY2 gene which resides on the Y chromosome.

Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the cell's ability to respond to androgens. The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics at puberty in males, but does not affect genital differentiation or development. Female genital and sexual development is not significantly affected by the insensitivity to androgens; as such, MAIS is only diagnosed in males. The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair.

The DAZprotein family is a group of three highly conserved RNA-binding proteins that are important in gametogenesis and meiosis. Therefore, mutations in the genes that encode for the DAZ proteins can have detrimental consequences for fertility.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000187191 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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". Genomics. 67 (3): 256–67. doi:10.1006/geno.2000.6260. PMID 10936047.
1 2 "Entrez Gene: DAZ3 deleted in azoospermia 3".

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. PMID 11688365.
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. PMID 11694340. S2CID 54277826.
Vogt PH, Fernandes S (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, 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. PMID 7670487. S2CID 2917750.
Reijo R, Seligman J, Dinulos MB, et al. (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 (1996). "A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads". Hum. Mol. Genet. 5 (4): 513–6. doi: 10.1093/hmg/5.4.513 . PMID 8845845.
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. PMID 8896558. S2CID 34964224.
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 . PMID 8968756.
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. Genome. 8 (10): 756–9. doi:10.1007/s003359900560. PMID 9321470. S2CID 33258251.
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 . PMID 9700189.
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". Genomics. 65 (3): 266–73. doi:10.1006/geno.2000.6169. PMID 10857750.
Ruggiu M, Cooke HJ (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.
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 . PMID 11058556.
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/jcem.85.11.6929 . PMID 11095434.
Xu EY, Moore FL, Pera RA (2001). "A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7414–9. Bibcode:2001PNAS...98.7414Y. doi: 10.1073/pnas.131090498 . PMC 34683 . PMID 11390979.
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 . PMID 11869379.
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. doi:10.1007/bf03343952. PMID 11883873. S2CID 24737444.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000187191 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10936047-3] 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". Genomics. 67 (3): 256–67. doi:10.1006/geno.2000.6260. PMID 10936047.

[entrez-4] 1 2 "Entrez Gene: DAZ3 deleted in azoospermia 3".

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DAZ3

Related Research Articles

References

Further reading