Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-mb YAC contig spanning Xq21

Cinzia Sala, Giulia Arrigo, Giovanna Torri, Francesco Martinazzi, Paola Riva, Lidia Larizza, Christophe Philippe, Philippe Jonveaux, Frederique Sloan, Tullio Labella, Daniela Toniolo

Research output: Contribution to journalArticlepeer-review

Abstract

Eleven balanced X-autosome translocations associated with premature ovarian failure (POF) were mapped to a YAC contig spanning most of Xq21 and constructed between the DXS223 and DXS1171 loci. The contig corresponds to a genomic region of about 15 Mb and contains the whole X-Y homologous region. The most proximal and most distal breakpoints associated with POF were mapped 15 Mb apart. The remaining breakpoints were localized along this large region, in the X-specific and in the X-Y homologous region. Four of the YACs contained two breakpoints in the same or in flanking STS intervals. Our results confirm the cytological findings and suggest that a minimum number of eight different genes in Xq21 may be involved with ovary development. Interruption of such loci could be the cause of POF.

Original languageEnglish
Pages (from-to)123-131
Number of pages9
JournalGenomics
Volume40
Issue number1
DOIs
Publication statusPublished - Feb 15 1997

ASJC Scopus subject areas

  • Genetics

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