2008/08/01 by Kiyun Park, Joohyun Kang, Krishna Pd Subedi +2 · 3 citations
Biochemistry, Genetics and Molecular Biology · #Base sequence #Biology #Congenital limb and hand anomalies #Conserved sequence #Gene #Genetics #Genomic variations and chromosomal abnormalities #Hedgehog Signaling Pathway Studies #Mutation #Sequence (biology)
paper · pdf · doi:10.1534/genetics.108.087114
openalex publication_date 2008/08/01 · openalex created_date 2016/06/24 · openalex updated_date 2026/05/21
Canine preaxial polydactyly (PPD) in the hind limb is a developmental trait that restores the first digit lost during canine evolution. Using a linkage analysis, we previously demonstrated that the affected gene in a Korean breed is located on canine chromosome 16. The candidate locus was further limited to a linkage disequilibrium (LD) block of <213 kb composing the single gene, LMBR1, by LD mapping with single nucleotide polymorphisms (SNPs) for affected individuals from both Korean and Western breeds. The ZPA regulatory sequence (ZRS) in intron 5 of LMBR1 was implicated in mammalian polydactyly. An analysis of the LD haplotypes around the ZRS for various dog breeds revealed that only a subset is assigned to Western breeds. Furthermore, two distinct affected haplotypes for Asian and Western breeds were found, each containing different single-base changes in the upstream sequence (pZRS) of the ZRS. Unlike the previously characterized cases of PPD identified in the mouse and human ZRS regions, the canine mutations in pZRS lacked the ectopic expression of sonic hedgehog in the anterior limb bud, distinguishing its role in limb development from that of the ZRS.