DAZ2

DAZ2
Identifikatori
Aliasi	DAZ2
Vanjski ID-jevi	OMIM: 400026 MGI: 1342328 HomoloGene: 86954 GeneCards: DAZ2
Lokacija gena (čovjek)
Hrom.	Hromosom Y
Kraj	23,291,356 bp
Lokacija gena (miš)
Hrom.	Hromosom 17 (miš)
Kraj	50,600,664 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• vezivanje sa RNK; • nucleic acid binding; • translation activator activity; • GO:0001948, GO:0016582 vezivanje za proteine; • mRNA binding; • mRNA 3'-UTR binding;
Ćelijska komponenta	• jedro; • citoplazma; • intracellular anatomical structure; • GO:0009327 makromolekulani kompleks;
Biološki proces	• multicellular organism development; • Ćelijska diferencijacija; • Spermatogeneza; • single fertilization; • positive regulation of translational initiation; • 3'-UTR-mediated mRNA stabilization; • germ cell development;
	Izvori:Amigo / QuickGO
Ortolozi
	57055
	13164
	ENSG00000205944
	ENSMUSG00000010592
	Q13117
	Q64368
	NM_020363; NM_001005785; NM_001005786
	NM_001277863; NM_010021
	NP_001005785; NP_001005786; NP_065096
	NP_001264792; NP_034151
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Azospermijski deletirani protein 2 je protein koji je kod ljudi kodiran genom DAZ2.^[5]^[6]

Ovaj gen je član porodica gena DAZ i kandidat je za faktor azoospermije (AZF) ljudskog Y-hromosoma. Njegov ekspresija ograničena je na premejotične germ ćelije, posebno u spermatogonijama. Kodira RNK-vezani protein, važan za spermatogenezu. Na hromozom Y nalaze se njegove četiri kopije, unutar palindromskih duplikacija. Jedan par gena dio je P2-palindroma, a drugi je dio P1-palindroma. Svaki gen sadrži ponavljanje od 2,4 kb, uključujući 72-bp egzon, zvani DAZ-ponavljanje; broj DAZ ponavljanja je promjenjiv i postoji nekoliko varijacija uponavljajućoj sekvenci DAZ-a. Svaka kopija gena također sadrži regiju od 10,8 kb koja se može pojačati; ovo područje uključuje pet egzona, koji kodiraju domen zvani motiv prepoznavanja RNK (RRM). Ovaj gen sadrži jednu kopiju ponavljanja od 10,8 kb. Alternativna prerada RNK rezultira u više varijanti transkripata koji kodiraju različite izoforme.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000205944 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000010592 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse 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.
^ ^a ^b "Entrez Gene: DAZ2 deleted in azoospermia 2".

Dopunska literatura

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.
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.
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.
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.
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.
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. PMID 9557839.
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/jc.85.11.4069. 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. 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.
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. PMID 11870237.
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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000205944 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000010592 - Ensembl, maj 2017

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

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

[pmid10936047-5] 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-6] "Entrez Gene: DAZ2 deleted in azoospermia 2".

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