Vogt Peter H
Section of Molecular Genetics and Infertility, Department of Gynecological Endocrinology and Reproductive Medicine, University of Heidelberg, Heidelberg, Germany.
Reprod Biomed Online. 2005 Jan;10(1):81-93. doi: 10.1016/s1472-6483(10)60807-3.
The Y chromosomal azoospermia factor (AZF) is essential for human spermatogenesis. It has been mapped by molecular deletion analyses to three subintervals in Yq11, AZFa, AZFb, and AZFc, containing a number of genes of which at least some control, post-transcriptionally, the RNA metabolism of other spermatogenesis genes, functionally expressed at different phases of the spermatogenic cycle. Intrachromosomal recombination events between homologous large repetitive sequence block in Yq11 are now recognized as the major cause of the AZFa, AZFb and AZFc microdeletions, and an overlap of the AZFb and AZFc regions was revealed by sequence analysis of the complete Yq11 region. The increasing knowledge of the expression patterns of AZF genes in human germ cells suggests that the DBY gene is the major AZFa gene, the RBMY gene the major AZFb gene, although a functional expression of the other AZFa/b genes in the male germ line is also most likely. Genetic redundancy might exist in AZFc because a number of gene copies in the large P1 palindrome structure in distal AZFc were found to be deleted also in fertile men.
Y染色体无精子症因子（AZF）对人类精子发生至关重要。通过分子缺失分析，它已被定位到Yq11的三个亚区间，即AZFa、AZFb和AZFc，其中包含许多基因，这些基因中至少有一些在转录后控制其他精子发生基因的RNA代谢，这些基因在精子发生周期的不同阶段功能性表达。Yq11中同源大重复序列块之间的染色体内重组事件现在被认为是AZFa、AZFb和AZFc微缺失的主要原因，并且通过对完整Yq11区域的序列分析揭示了AZFb和AZFc区域的重叠。对人类生殖细胞中AZF基因表达模式的了解越来越多，这表明DBY基因是主要的AZFa基因，RBMY基因是主要的AZFb基因，尽管其他AZFa/b基因在雄性生殖系中的功能性表达也很可能存在。AZFc中可能存在遗传冗余，因为在远端AZFc的大P1回文结构中的一些基因拷贝在可育男性中也被发现缺失。
