A form of albinism in cattle is caused by a tyrosinase frameshift mutation

Sheila M. Schmutz; Tom G. Berryere; Daniel C. Ciobanu; Alan J. Mileham; Barbara H. Schmidtz; Merete Fredholm

doi:10.1007/s00335-002-2249-5

A form of albinism in cattle is caused by a tyrosinase frameshift mutation

Sheila M. Schmutz, Tom G. Berryere, Daniel C. Ciobanu, Alan J. Mileham, Barbara H. Schmidtz, Merete Fredholm

Research output: Contribution to journal › Article › peer-review

75 Scopus citations

Abstract

We used PCR amplification of cDNA prepared from skin biopsies to determine the full-length protein-coding sequence of tyrosinase (TYR) in cattle of several coat colors. An insertion of a cytosine was detected in an albino Braunvieh calf, which resulted in a frameshift which caused a premature stop codon at residue 316. This insertion was found in the homozygous state in this calf and the genomic DNA of two related albino calves. All six parents of these calves were heterozygous for this insertion. However, an albino Holstein calf did not have this insertion, nor was any other mutation detected in the partial TYR sequence obtained from the genomic DNA available. Diagnostic genotyping tests were developed to detect this mutation in Braunvieh cattle.

Original language	English (US)
Pages (from-to)	62-67
Number of pages	6
Journal	Mammalian Genome
Volume	15
Issue number	1
DOIs	https://doi.org/10.1007/s00335-002-2249-5
State	Published - Jan 2004
Externally published	Yes

ASJC Scopus subject areas

Genetics

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abstract = "We used PCR amplification of cDNA prepared from skin biopsies to determine the full-length protein-coding sequence of tyrosinase (TYR) in cattle of several coat colors. An insertion of a cytosine was detected in an albino Braunvieh calf, which resulted in a frameshift which caused a premature stop codon at residue 316. This insertion was found in the homozygous state in this calf and the genomic DNA of two related albino calves. All six parents of these calves were heterozygous for this insertion. However, an albino Holstein calf did not have this insertion, nor was any other mutation detected in the partial TYR sequence obtained from the genomic DNA available. Diagnostic genotyping tests were developed to detect this mutation in Braunvieh cattle.",

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AU - Mileham, Alan J.

AU - Schmidtz, Barbara H.

AU - Fredholm, Merete

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AB - We used PCR amplification of cDNA prepared from skin biopsies to determine the full-length protein-coding sequence of tyrosinase (TYR) in cattle of several coat colors. An insertion of a cytosine was detected in an albino Braunvieh calf, which resulted in a frameshift which caused a premature stop codon at residue 316. This insertion was found in the homozygous state in this calf and the genomic DNA of two related albino calves. All six parents of these calves were heterozygous for this insertion. However, an albino Holstein calf did not have this insertion, nor was any other mutation detected in the partial TYR sequence obtained from the genomic DNA available. Diagnostic genotyping tests were developed to detect this mutation in Braunvieh cattle.

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A form of albinism in cattle is caused by a tyrosinase frameshift mutation

Abstract

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