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Open AccessResearch article

Cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) mutations associated with the domestic cat AB blood group

Barbara Bighignoli1 email, Tirri Niini2 email, Robert A Grahn3 email, Niels C Pedersen4,5 email, Lee V Millon5 email, Michele Polli1 email, Maria Longeri1 email and Leslie A Lyons1,3 email

1Istituto di Zootecnica, Faculty of Veterinary Medicine, University of Milan, Milan, Italy

2Oy Triniini Company, P.O. Box 36, FIN-00501, Helsinki, Finland

3Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, Davis, CA USA

4Department of Veterinary Medicine and Epidemiology, School of Veterinary Medicine, University of California, Davis, Davis, CA USA

5Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, Davis, CA USA

author email corresponding author email

BMC Genetics 2007, 8:27doi:10.1186/1471-2156-8-27

Published: 6 June 2007

Additional files

Additional File 1:

Sequence and protein translation of feline CMAH. The composite feline sequence of CMAH is presented with its protein translation listed above the cDNA sequence. Identified DNA variants are presented in bold and underlined. Mutations that cause an amino acid change are presented with an underlined codon, the mutation and protein code in bold. The cDNA sequence of the dog [Ensembl: ENSCAFT00000016708], human [GenBank: AF074480] and mouse [GenBank: D21826] are presented below the cat. Missing sequences are presented as dashes. The 2 codons of exon 1 have not yet been identified in the dog, 2 additional codons are absent downstream. Approximately 31 amino acids are deleted in humans, causing inactivation of the enzyme.

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