title: Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly.
abstract: 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.
authors.affiliation: State Key Laboratory of Biotechnology, China Agricultural University, Beijing, 1000094 China.
authors.forename: Yan Qun
authors.initials: YQ
authors.lastname: Huang
authors.forename: Xue Mei
authors.initials: XM
authors.lastname: Deng
authors.forename: Zhi Qiang
authors.initials: ZQ
authors.lastname: Du
authors.forename: Xiangpin
authors.initials: X
authors.lastname: Qiu
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Du
authors.forename: Wen
authors.initials: W
authors.lastname: Chen
authors.forename: Mireille
authors.initials: M
authors.lastname: Morisson
authors.forename: Sophie
authors.initials: S
authors.lastname: Leroux
authors.forename: F Abel
authors.initials: FA
authors.lastname: Ponce de Léon
authors.forename: Yang
authors.initials: Y
authors.lastname: Da
authors.forename: Ning
authors.initials: N
authors.lastname: Li
mesh_terms: 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
chemical_list: C485955:LMBR1 protein, human; C417920:Lmbr1 protein, mouse; D008565:Membrane Proteins; D020033:Protein Isoforms