Journal Article

A Dinucleotide Mutation in the Endothelin-B Receptor Gene Is Associated with Lethal White Foal Syndrome (LWFS); A Horse Variant of Hirschsprung Disease (HSCR)

G. C. Yan, D. Croaker, A. L. Zhang, P. Manglick, T. Cartmill and D. Cass

in Human Molecular Genetics

Volume 7, issue 6, pages 1047-1052
Published in print June 1998 | ISSN: 0964-6906
Published online June 1998 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/7.6.1047
A Dinucleotide Mutation in the Endothelin-B Receptor Gene Is Associated with Lethal White Foal Syndrome (LWFS); A Horse Variant of Hirschsprung Disease (HSCR)

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Lethal white foal syndrome (LWFS) is a congenital anomaly of horses characterized by a white coat colour and aganglionosis of the bowel, which is similar to Hirschsprung disease (HSCR). We decided to investigate possible mutations of the endothelin-B receptor gene (EDNRB) in LWFS as recent studies in mutant rodents and some patients have demonstrated EDNRB defects. First, we identified a full-length cDNA for horse EDNRB. This cDNA fragment contained a 1329 bp open reading frame which encoded 443 amino acid residues. The predicted amino acid sequence was 89, 91 and 85% identical to human, bovine and mouse as well as rat EDNRB respectively, but only 55% identical to the human, bovine and rat endothelin A receptor (EDNRA). Secondly, sequence analysis, together with allele-specific PCR and the amplification-created restriction site (ACRS) technique, revealed a dinucleo-tide TC→AG mutation, which changed isoleucine to lysine in the predicted first transmembrane domain of the EDNRB protein. This was associated with LWFS when homozygous and with the overo phenotype when heterozygous.

Journal Article.  4100 words.  Illustrated.

Subjects: Genetics and Genomics

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