Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly.
Polydactyly is a common malformation of vertebrate limbs. Preaxial polydactyly (PPD) has been mapped in human, mouse and chicken to the syntenic region of human 7q36. Lmbr1 was thought as the critical candidate gene for human and mouse PPD. To understand the molecular mechanism underlying chicken polydactyly, we have cloned the open reading frame (ORF) of chicken Lmbr1, which contains 1467 nucleotides. Within this ORF, we found one short and one long splice forms. The short splice form has a complete deletion of exon 4. Six cSNPs were found in the chicken ORF, and two of these cSNPs, G797A and G1255A, lead to amino acid substitutions. However, G797A substitution had no significant association with polydactyly and the G1255A substitution had very low frequency in the population. The T1254C polymorphism in exon 13 was found to be strongly associated with polydactyly. Radiation hybrid mapping of a DNA fragment containing intron 13 of the chicken Lmbr1 assigned the gene to chromosome 2 between MCW071 (a marker within the EN2 gene) and ADL0270, a syntenic region to human 7q36.
Huang
Yan Qun
YQ
State Key Laboratory of Biotechnology, China Agricultural University, Beijing, 1000094 China.
Deng
Xue Mei
XM
Du
Zhi Qiang
ZQ
Qiu
Xiangpin
X
Du
Xiaohui
X
Chen
Wen
W
Morisson
Mireille
M
Leroux
Sophie
S
Ponce de Léon
F Abel
FA
Da
Yang
Y
Li
Ning
N
D000483:Alleles; D017398:Alternative Splicing; D019943:Amino Acid Substitution; D000818:Animals; D001483:Base Sequence; D002645:Chickens / Q000235:genetics*; D002875:Chromosomes; D003001:Cloning, Molecular; D005091:Exons; D008040:Genetic Linkage; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D017689:Polydactyly / Q000209:etiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D021101:Radiation Hybrid Mapping
C485955:LMBR1 protein, human; C417920:Lmbr1 protein, mouse; D008565:Membrane Proteins; D020033:Protein Isoforms