title: Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21.
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.
authors.affiliation: DIBIT-HSR, Milan, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Sala
authors.forename: G
authors.initials: G
authors.lastname: Arrigo
authors.forename: G
authors.initials: G
authors.lastname: Torri
authors.forename: F
authors.initials: F
authors.lastname: Martinazzi
authors.forename: P
authors.initials: P
authors.lastname: Riva
authors.forename: L
authors.initials: L
authors.lastname: Larizza
authors.forename: C
authors.initials: C
authors.lastname: Philippe
authors.forename: P
authors.initials: P
authors.lastname: Jonveaux
authors.forename: F
authors.initials: F
authors.lastname: Sloan
authors.forename: T
authors.initials: T
authors.lastname: Labella
authors.forename: D
authors.initials: D
authors.lastname: Toniolo
mesh_terms: D002352:Carrier Proteins; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D005260:Female; D000080865:Formins; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D014960:X Chromosome
chemical_list: D002352:Carrier Proteins; C491462:DIAPH2 protein, human; D000080865:Formins