title: Predictive mutational bioinformatic analysis of variation in the skin and wool associated corneodesmosin (CDSN) gene in sheep.
abstract: Corneodesmosin (CDSN) is an important component of the desmosome in the epidermal cornified stratum and inner root sheath of hair follicles. DNA from a sheep BAC clone previously identified by us to contain CDSN was PCR amplified using cattle-derived primers and the product sequenced. A region of 4579 bp containing CDSN was shown to contain two exons separated by one intron and spanning 3683 bp. The DNA encodes a predicted protein of 546 amino acids. Phylogenetic analysis shows that sheep CDSN falls within a clade containing cattle and other ruminant-like species. Comparison of sequences generated from 12 unrelated merino sheep and the International Sheep Genome Consortium (ISGC) data identified 58 single nucleotide polymorphisms (SNPs) within the 4579 bp region of which 16 are contained within coding sequences (1 in 80 bp). The SNPs identified in this study will add to the Major Histocompatibility Complex (MHC) SNP panel, which will allow extensive haplotyping of the sheep MHC in future studies.
authors.affiliation: Western Australian Biomedical Research Institute (WABRI) & Centre for Health Innovation Research Institute (CHIRI), School of Biomedical Sciences, Curtin University, Perth             School of Biological Sciences, Murdoch University, Murdoch, Australia.
authors.forename: Nitthiya
authors.initials: N
authors.lastname: Siva Subramaniam
authors.forename: Eleanor
authors.initials: E
authors.lastname: Morgan
authors.forename: Steven
authors.initials: S
authors.lastname: Bottomley
authors.forename: Sharon
authors.initials: S
authors.lastname: Tay
authors.forename: Keith
authors.initials: K
authors.lastname: Gregg
authors.forename: Chee Yang
authors.initials: CY
authors.lastname: Lee
authors.forename: John
authors.initials: J
authors.lastname: Wetherall
authors.forename: David
authors.initials: D
authors.lastname: Groth
mesh_terms: D000818:Animals; D003896:Desmosomes / Q000235:genetics*; D009154:Mutation; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D012756:Sheep / Q000033:anatomy & histology / Q000235:genetics*; D012879:Skin Physiological Phenomena; D014935:Wool / Q000502:physiology