Saxena R, Brown L G, Hawkins T, Alagappan R K, Skaletsky H, Reeve M P, Reijo R, Rozen S, Dinulos M B, Disteche C M, Page D C
Howard Hughes Medical Institute, Cambridge, Massachusetts, USA.
Nat Genet. 1996 Nov;14(3):292-9. doi: 10.1038/ng1196-292.
It is widely believed that most or all Y-chromosomal genes were once shared with the X chromosome. The DAZ gene is a candidate for the human Y-chromosomal Azoospermia Factor (AZF). We report multiple copies of DAZ (> 99% identical in DNA sequence) clustered in the AZF region and a functional DAZ homologue (DAZH) on human chromosome 3. The entire gene family appears to be expressed in germ cells. Sequence analysis indicates that the Y-chromosomal DAZ cluster arose during primate evolution by (i) transposing the autosomal gene to the Y, (ii) amplifying and pruning exons within the transposed gene and (iii) amplifying the modified gene. These results challenge prevailing views of sex chromosome evolution, suggesting that acquisition of autosomal fertility genes is an important process in Y chromosome evolution.
人们普遍认为，大多数或所有Y染色体基因曾经都与X染色体共享。DAZ基因是人类Y染色体无精子症因子（AZF）的候选基因。我们报告了多个DAZ拷贝（DNA序列相似度>99%）聚集在AZF区域，以及人类3号染色体上一个功能性DAZ同源物（DAZH）。整个基因家族似乎在生殖细胞中表达。序列分析表明，Y染色体上的DAZ簇在灵长类动物进化过程中产生，方式为：（i）将常染色体基因转座到Y染色体上；（ii）在转座基因内扩增和修剪外显子；（iii）扩增修饰后的基因。这些结果挑战了性染色体进化的主流观点，表明常染色体生育基因的获得是Y染色体进化中的一个重要过程。
