Document Type

Journal Article

Date of this Version

2-2009

Publication Source

Mammalian Genome

Volume

20

Issue

2

Start Page

109

Last Page

123

DOI

10.1007/s00335-008-9163-4

Abstract

Rod-cone dysplasia type 2 (rcd2) is an autosomal recessive disorder that segregates in collie dogs. Linkage disequilibrium and meiotic linkage mapping were combined to take advantage of population structure within this breed and to fine map rcd2 to a 230-kb candidate region that included the gene C1orf36 responsible for human and murine rd3, and within which all affected dogs were homozygous for one haplotype. In one of three identified canine retinal RD3 splice variants, an insertion was found that cosegregates with rcd2 and is predicted to alter the last 61 codons of the normal open reading frame and further extend the open reading frame. Thus, combined meiotic linkage and LD mapping within a single canine breed can yield critical reduction of the disease interval when appropriate advantage is taken of within-breed population structure. This should permit a similar approach to tackle other hereditary traits that segregate in single closed populations.

Copyright/Permission Statement

The final publication is available at www.springerlink.com

Keywords

retinal cdna, splice variant, retinal degeneration, mouse exon, affected dog, rna, polynucleotide, information biomacromolecule, bac clone, nucleic acid, opossum genome, proline, northern blot analysis, amino acid, arginine

Additional Files

Kukekova_Mamm Genom Supp_2009.pdf (305 kB)
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Date Posted: 06 May 2015

This document has been peer reviewed.