title: Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region.
abstract: To clone the goat Polled Intersex Syndrome (PIS) gene(s), a chromosome walk was performed from six entry points at 1q43. This enabled 91 BACs to be recovered from a recently constructed goat BAC library. Six BAC contigs of goat chromosome 1q43 (ICC1-ICC6) were thus constructed covering altogether 4.5 Mb. A total of 37 microsatellite sequences were isolated from this 4.5-Mb region (16 in this study), of which 33 were genotyped and mapped. ICC3 (1500 kb) was shown by genetic analysis to encompass the PIS locus in a approximately 400-kb interval without recombinants detected in the resource families (293 informative meioses). A strong linkage disequilibrium was detected among unrelated animals with the two central markers of the region, suggesting a probable location for PIS in approximately 100 kb. High-resolution comparative mapping with human data shows that this DNA segment is the homolog of the human region associated with Blepharophimosis Ptosis Epicanthus inversus Syndrome (BPES) gene located in 3q23. This finding suggests that homologous gene(s) could be responsible for the pathologies observed in humans and goats.
authors.affiliation: Institut National de la Recherche Agronomique (INRA), Département de Génétique Animale, Laboratoire de Génétique biochimique et de Cytogénétique, 78350 Jouy-en-Josas, France.
authors.forename: L
authors.initials: L
authors.lastname: Schibler
authors.forename: E P
authors.initials: EP
authors.lastname: Cribiu
authors.forename: A
authors.initials: A
authors.lastname: Oustry-Vaiman
authors.forename: J P
authors.initials: JP
authors.lastname: Furet
authors.forename: D
authors.initials: D
authors.lastname: Vaiman
mesh_terms: D000818:Animals; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D016386:Chromosome Walking; D020451:Contig Mapping; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006041:Goats; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008969:Molecular Sequence Data; D012689:Sequence Homology, Nucleic Acid; D019849:Sex Determination Processes; D013577:Syndrome