Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types |
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Authors: | Kim E Haworth Ira Islam Matthew Breen Wendy Putt Eleni Makrinou Matthew Binns David Hopkinson Yvonne Edwards |
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Institution: | (1) MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK, GB;(2) Animal Health Trust Lanwades Park Kennett* Newmarket, Suffolk CB8 7PN, UK, GB |
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Abstract: | We describe the construction of a dog embryonic head/neck cDNA library and the isolation of the dog homolog of the Treacher
Collins Syndrome gene, TCOF1. The protein shows a similar three-domain structure to that described for human TCOF1, but the dog gene lacks exon 10 and
contains two exons not present in the human sequence. In addition, exon 19 is differentially spliced in the dog. How these
structural differences relate to TCOF1 phosphorylation is discussed. Isolation of a genomic clone allowed the exon/intron
boundaries to be characterized and the dog TCOF1 gene to be mapped to CF Chr 4q31, a region syntenic to human Chr 5. Genetic analysis of DNA of dogs from 13 different breeds
identified nine DNA sequence variants, three of which gave rise to amino acid substitutions. Grouping dogs according to head
type showed that a C396T variant, leading to a Pro117Ser substitution, is associated with skull/face shape in our dog panel.
The numbers are small, but the association between the T allele and brachycephaly, broad skull/short face, was highly significant
(p= 0.000024). The short period of time during which the domestic dog breeds have been established suggests that this mutation
has arisen only once in the history of dog domestication.
Received: 12 January 2001 / Accepted: 1 April 2001 |
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