DAZ3

DAZ3

A gene on chromosome Yq11.223 that encodes an RNA-binding protein expressed only in premeiotic germ cells, especially in spermatogonia, which plays an essential role in spermatogenesis, possibly by binding to the 3’-UTR of mRNAs and regulating their translation. DAZ3 promotes germ cell progression to meiosis and formation of haploid germ cells and is a candidate for Y-chromosomal azoospermia factor. It forms a heterodimer with BOLL and DAZL, and interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.

Molecular pathology
Defects in DAZ3 cause spermatogenic failure Y-linked type 2.
References in periodicals archive ?
Los genes analizados, mediante PCR multiplex, contenidos en cada STSs, por cada Multiplex master mix A (DAZ, DYS240, DYS271, DYS221, KAL-Y, y control interno SMCX); Multiplex master mix B (SMCY, DYS218, DAZ2 Y DAZ3, y control interno SMCX); Multiplex master mix C (DYS219, DYS212, DYF51S1, DAZ4 Y control interno SMCX); Multiplex master mix D (DYS223, DYS236,DYS215, y control interno SMCX) y Multiplex master mix E (SRY, DYS224, DYS148, DYS273 y control interno ZFX/ZFY).
31 estan ausentes: en A (las dos primeras bandas genicas, correspondientes a DAZ (1) y DYS240, de los STS DYS254 y DYS157 respectivamente), en master B (la tercera y cuarta bandas genicas, correspondiente a DAZ2 y DAZ3 de los STSs SY242 y SY208 respectivamente) y el master C (la cuarta banda genica correspondiente DYS232 del STS DY152) concluyendo claramente microdelecion, de cinco (5) bandas genicas en el caso 31.
DAZ gene family is the most important candidate gene for male infertility in this region and consists of four functional copies including DAZ1, DAZ2, DAZ3 and DAZ4 arranged in two clusters (18,23).