Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21.
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.
Sala
C
C
DIBIT-HSR, Milan, Italy.
Arrigo
G
G
Torri
G
G
Martinazzi
F
F
Riva
P
P
Larizza
L
L
Philippe
C
C
Jonveaux
P
P
Sloan
F
F
Labella
T
T
Toniolo
D
D
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
D002352:Carrier Proteins; C491462:DIAPH2 protein, human; D000080865:Formins