The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

Published

Journal Article

Deletions of the AZFc (azoospermia factor c) region of the Y chromosome are the most common known cause of spermatogenic failure. We determined the complete nucleotide sequence of AZFc by identifying and distinguishing between near-identical amplicons (massive repeat units) using an iterative mapping-sequencing process. A complex of three palindromes, the largest spanning 3 Mb with 99.97% identity between its arms, encompasses the AZFc region. The palindromes are constructed from six distinct families of amplicons, with unit lengths of 115-678 kb, and may have resulted from tandem duplication and inversion during primate evolution. The palindromic complex contains 11 families of transcription units, all expressed in testis. Deletions of AZFc that cause infertility are remarkably uniform, spanning a 3.5-Mb segment and bounded by 229-kb direct repeats that probably served as substrates for homologous recombination.

Full Text

Duke Authors

Cited Authors

  • Kuroda-Kawaguchi, T; Skaletsky, H; Brown, LG; Minx, PJ; Cordum, HS; Waterston, RH; Wilson, RK; Silber, S; Oates, R; Rozen, S; Page, DC

Published Date

  • November 2001

Published In

Volume / Issue

  • 29 / 3

Start / End Page

  • 279 - 286

PubMed ID

  • 11687796

Pubmed Central ID

  • 11687796

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng757

Language

  • eng