A repeating unit of the DYZ1 family on the human Y chromosome consists of segments with partial male-specificity

摘要

An average-sized human Y chromosome contains about 3,000 copies of the repeating DNA family DYZ1. A major repeating unit of the family, pHYlO, has been cloned and an entire 3,564-bp sequence has already been determined by Nakahori et al. (1986). In the present study, pHYlO was divided into six consecutive segments, A to F, which were independently amplified by the PCR technique to see if they were strictly male-specific. pHYlO appears to consist of segments of various male-specificity. The B segment was apparently male-specific; however, the use of additional techniques (Southern-blot analysis or second PCR amplification in combination with the standard PCR) revealed homologous sequences in some females. None of the six segments of pHYlO may be male-specific in a strict sense. Different segments appear to be conserved during evolution to different extents. The 323-bp E segment appears to be the least conserved and to be responsible for the generation of most variations within the DYZ1 family.