Fine Mapping Suggests that the Goat Polled Intersex Syndrome and the Human Blepharophimosis Ptosis Epicanthus Syndrome Map to a 100-kb Homologous Region
| Autor: | Laurent Schibler, Daniel Vaiman, Jean-Pierre Furet, Edmond P. Cribiu, Anne Oustry-Vaiman |
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| Přispěvatelé: | Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Institut National de la Recherche Agronomique (INRA), ProdInra, Migration |
| Jazyk: | angličtina |
| Rok vydání: | 2000 |
| Předmět: |
Male
Letter Genetic Linkage [SDV]Life Sciences [q-bio] Molecular Sequence Data Locus (genetics) Biology CARTOGRAPHIE GENETIQUE Blepharophimosis Contig Mapping Linkage Disequilibrium Chromosome Walking Gene mapping Genetic linkage Sequence Homology Nucleic Acid Genetics medicine Animals Blepharoptosis Humans Genetics (clinical) ComputingMilieux_MISCELLANEOUS Contig Genetic Carrier Screening Goats Chromosome Syndrome Sex Determination Processes medicine.disease [SDV] Life Sciences [q-bio] LOCALISATION DE GENE Haplotypes Microsatellite Female |
| Zdroj: | Genome Research Genome Research, Cold Spring Harbor Laboratory Press, 2000, 10, pp.311-318 |
| ISSN: | 1088-9051 1549-5469 |
| Popis: | 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 ∼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 ∼100 kb. High-resolution comparative mapping with human data shows that this DNA segment is the homolog of the human region associated withBlepharophimosis 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.[The sequence data, PCR primers and PCR conditions for STS and microsatellites described in this paper have been submitted to the GenBank data library under accession nos.AQ666547–AQ666579, AQ686084–AQ686129, AQ793920–793931,AQ810429–AQ810527, G41201–G41228, and G54270–G54286.] |
| Databáze: | OpenAIRE |
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