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 journalArticle

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

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Chromosome Breakpoints
Primary Ovarian Insufficiency
X Chromosome
Ovary
Genes

ASJC Scopus subject areas

  • Genetics

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Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-mb YAC contig spanning Xq21. / Sala, Cinzia; Arrigo, Giulia; Torri, Giovanna; Martinazzi, Francesco; Riva, Paola; Larizza, Lidia; Philippe, Christophe; Jonveaux, Philippe; Sloan, Frederique; Labella, Tullio; Toniolo, Daniela.

In: Genomics, Vol. 40, No. 1, 15.02.1997, p. 123-131.

Research output: Contribution to journalArticle

Sala, C, Arrigo, G, Torri, G, Martinazzi, F, Riva, P, Larizza, L, Philippe, C, Jonveaux, P, Sloan, F, Labella, T & Toniolo, D 1997, 'Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-mb YAC contig spanning Xq21', Genomics, vol. 40, no. 1, pp. 123-131. https://doi.org/10.1006/geno.1996.4542
Sala, Cinzia ; Arrigo, Giulia ; Torri, Giovanna ; Martinazzi, Francesco ; Riva, Paola ; Larizza, Lidia ; Philippe, Christophe ; Jonveaux, Philippe ; Sloan, Frederique ; Labella, Tullio ; Toniolo, Daniela. / Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-mb YAC contig spanning Xq21. In: Genomics. 1997 ; Vol. 40, No. 1. pp. 123-131.
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AU - Larizza, Lidia

AU - Philippe, Christophe

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