The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned

摘要: It is widely believed that most or all Y–chromosomal genes were once shared with the X chromosome. The DAZ gene a candidate for human Azoospermia Factor (AZF). We report multiple copies of (>99% identical in DNA sequence) clustered AZF region and functional homologue (DAZH) on chromosome 3. entire family appears to be expressed germ cells. Sequence analysis indicates cluster arose during primate evolution by (i) transposing autosomal Y, (ii) amplifying pruning exons within transposed (iii) modified gene. These results challenge prevailing views sex evolution, suggesting acquisition fertility an important process Y evolution.