PMID: 8975700Dec 15, 1996Paper

Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region

Genomics
T JoensuuE M Sankila

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 ancestral USH3 mutation segregates. A multipoint linkage analysis assigned USH3 to a 4-cM region between D3S1555 and a novel marker D3S3625. By analysis of linkage disequilibrium and historical recombinations in 77 USH3 chromosomes, the location of the Finnish USH3 mutation could be narrowed to an approximately 1-cM interval between the markers D3S1299 and D3S3625. A gene for profilin-2 (PFN2) was mapped in the vicinity and excluded as a candidate for USH3 by sequencing. The putative mouse homolog of PFN2 was mapped to mouse chromosome 3, thus suggesting a localization for the mouse homolog of USH3.

Citations

Aug 27, 1998·Journal of Medical Genetics·P GaspariniL Zelante
Sep 11, 1998·Journal of Medical Genetics·D A BessantS S Bhattacharya
Oct 15, 1998·Proceedings of the National Academy of Sciences of the United States of America·A de la Chapelle, F A Wright
Jun 6, 2003·Clinical Genetics·Z M AhmedE R Wilcox
Jun 12, 2012·Acta Ophthalmologica·Hanna VästinsaloEeva-Marja Sankila
Jul 30, 2002·American Journal of Human Genetics·Randall R FieldsJanos Sumegi
Jun 24, 2003·Annales de génétique·V S TonkGopalrao V N Velagaleti
Mar 10, 2001·American Journal of Ophthalmology·M M DeAngelisT P Dryja
Jul 2, 2003·The Annals of Otology, Rhinology, and Laryngology·Ronald J E PenningsCor W R J Cremers
Mar 4, 1998·Current Opinion in Neurology·F P Cremers
Mar 11, 2003·Human Genetics·Reijo Norio
Aug 29, 2001·American Journal of Human Genetics·T JoensuuE M Sankila

❮ Previous
Next ❯

Related Concepts

Related Feeds

Artificial Chromosomes

Artificial chromosomes are genetically engineered chromosomes derived from the DNA of a species. Discover the latest research on artificial chromosomes here.