DAZ2
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
uredi- ^ 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
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