Refined Mapping of the Usher Syndrome Type III Locus on Chromosome 3, Exclusion of Candidate Genes, and Identification of the Putative Mouse Homologous Region |
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| Authors: | Tarja Joensuu Gonzalo Blanco Leenamaija Pakarinen Pertti Sistonen Helena Kääriäinen Steve Brown Albert de la Chapelle Eeva-Marja Sankila |
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| Institution: | aDepartment of Medical Genetics, University of Helsinki, Finland;bMRC Mouse Genome Centre, Harwell, Didcot, Oxfordshire, OX11 ORD, United Kingdom;cDepartment of Foniatry, University Hospital of Tampere, Finland;dFinnish Red Cross Blood Transfusion Service, Helsinki, Finland;eDepartment of Medical Genetics, The Family Federation of Finland, Helsinki, Finland |
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| Abstract: | A locus for Usher syndrome type III (USH3;MIM No. 276902) was recently assigned to a 5-cM region on chromosome 3q. We constructed a yeast artificial chromosome contig that allowed us to position novel polymorphisms in the region. These were typed in a total of 32 pedigrees from a geographically isolated Finnish founder population in which a putative single ancestralUSH3mutation segregates. A multipoint linkage analysis assignedUSH3to a 4-cM region betweenD3S1555and a novel markerD3S3625.By analysis of linkage disequilibrium and historical recombinations in 77USH3chromosomes, the location of the Finnish USH3 mutation could be narrowed to an approximately 1-cM interval between the markersD3S1299andD3S3625.A gene for profilin-2 (PFN2) was mapped in the vicinity and excluded as a candidate for USH3 by sequencing. The putative mouse homolog ofPFN2was mapped to mouse chromosome 3, thus suggesting a localization for the mouse homolog ofUSH3. |
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