DIVERSE SPERMATOGENIC DEFECTS IN HUMANS CAUSED BY Y-CHROMOSOME DELETIONS ENCOMPASSING A NOVEL RNA-BINDING PROTEIN GENE
DIVERSE SPERMATOGENIC DEFECTS IN HUMANS CAUSED BY Y-CHROMOSOME DELETIONS ENCOMPASSING A NOVEL RNA-BINDING PROTEIN GENE
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DOI：
10.1038/ng0895-383
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发表时间：
1995-08-01
期刊：
影响因子：
30.8
通讯作者：
PAGE, DC
中科院分区：
文献类型：
--
作者：
REIJO, R;LEE, TY;PAGE, DC
我们在89例无精子症患者中检测到12例Y染色体长臂部分缺失(精液中没有精子)，在他们的男性亲属或90名其他有生育能力的男性中没有检测到Y染色体缺失，这12个缺失重叠，定义了一个可能包含精子发生所需的一个或多个基因的区域(无精子因子，AZF)。AZF区域的缺失与高度可变的睾丸缺陷有关，从完全没有生殖细胞到生精停止并偶尔产生浓缩的精子细胞。我们在AZF区域没有发现YRRM基因的证据，YRRM基因最近被提出为AZF候选基因。该区域包含一个单拷贝基因DAZ(在无精子症中缺失)，该基因在成人睾丸中转录，似乎编码一种RNA结合蛋白。现在应该探索DAZ是AZF的可能性。
We have detected deletions of portions of the Y chromosome long arm in 12 of 89 men with azoospermia (no sperm in semen), No Y deletions were detected in their male relatives or in 90 other fertile males, The 12 deletions overlap, defining a region likely to contain one or more genes required for spermatogenesis (the Azoospermia Factor, AZF). Deletion of the AZF region is associated with highly variable testicular defects, ranging from complete absence of germ cells to spermatogenic arrest with occasional production of condensed spermatids. We find no evidence of YRRM genes, recently proposed as AZF candidates, in the AZF region. The region contains a single-copy gene, DAZ (Deleted in AZoospermia), which is transcribed in the adult testis and appears to encode an RNA binding protein. The possibility that DAZ is AZF should now be explored.