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.
Similar content being viewed by others
References
B Aigner U Besenfelder M Müller G Brem (2000) ArticleTitleTyrosinase gene variants in different rabbit strains. Mamm Genome 11 700–702 Occurrence Handle10.1007/s003350010120 Occurrence Handle1:CAS:528:DC%2BD3cXmslShtLo%3D Occurrence Handle10920244
P Carstens A Mehner J Prüfer (1934) ArticleTitleUntersuchungsergebnisse über das Aulftreten und Verhalten von Albinos beim Braunvieh. Züchtungskunde 9 399–411
Coat Color Genes (October 2002) International Federation of Pigment Cell Societies. World Wide Web (URL: http://www.cbc.umn.edu/ifpcs/micemut.htm )
D Durham-Pierre JM Gardner Y Nakatsu RA King U Francke et al. (1994) ArticleTitleAfrican origin of an intragenic deletion of the human P gene in tyrosinase-positive oculocutaneous albinism. Nat Genet 7 176–179 Occurrence Handle1:CAS:528:DyaK2cXksFWgur0%3D Occurrence Handle7920637
ME Foreman ML Lamoreux B Kwon JE Womack (1994) ArticleTitleMapping of the bovine albino locus. J Hered 85 318–320 Occurrence Handle1:CAS:528:DyaK2MXhtVegt7s%3D Occurrence Handle7930500
K Fukai SA Holmes NJ Lucchese V Mok Siu RG Weleber et al. (1995) ArticleTitleAutosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet 9 92–95 Occurrence Handle1:CAS:528:DyaK2MXjtFCrtrk%3D Occurrence Handle7704033
DS Gallagher Jr. PK Basrur JE Womack (1992) ArticleTitleIdentification of an autosome to X chromosome translocation in the domestic cow. J Hered 83 451–453 Occurrence Handle1:STN:280:ByyD1MvlsVY%3D Occurrence Handle1460252
CB Giebel KM Strunk RA Spritz (1991) ArticleTitleOrganization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 9 435–445 Occurrence Handle1:CAS:528:DyaK38XjsFeisQ%3D%3D Occurrence Handle1903356
HJ Greene HW Leipold KM Gelatt K Huston (1973) ArticleTitleComplete albinism in beef Shorthorn calves. J Hered 64 189–192 Occurrence Handle1:STN:280:CSuD28vmtFY%3D Occurrence Handle4766205
VJ Hearing K Tsukamoto (1991) ArticleTitleEnzymatic control of pigmentation in mammals. FASEB J 5 2902–2909 Occurrence Handle1:CAS:528:DyaK38XktVKl Occurrence Handle1752358
T Kunieda M Nakagiri M Takami H Ide H Ogawa (1999) ArticleTitleCloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle. Mamm Genome 10 1146–1149 Occurrence Handle10.1007/s003359901181 Occurrence Handle1:CAS:528:DC%2BD3cXksFOr Occurrence Handle10594238
ST Lee SK Park H Lee L Lee YW Park (1997) ArticleTitleDNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutenous albinism (OCA1). Jpn J Hum Genet 42 499–505 Occurrence Handle1:CAS:528:DyaK1cXhtFGhur4%3D Occurrence Handle9560949
HW Leipold K Huston KN Gelatt (1968) ArticleTitleComplete albinism in a Guernsey calf. J Hered 59 218–220 Occurrence Handle1:STN:280:CCaD1cvgt1A%3D Occurrence Handle5703382
B Lewin (2000) Genes VII. Oxford University Press New York
WS Oetting (2000) ArticleTitleThe tyrosinase gene and oculocutaneous albinism type I (OCA1): a model for understanding the molecular biology of melanin formation. Pigment Cell Res 13 320–325 Occurrence Handle10.1034/j.1600-0749.2000.130503.x Occurrence Handle1:CAS:528:DC%2BD3cXnsVegtLo%3D Occurrence Handle11041207
WS Oetting RA King (1994) ArticleTitleAnalysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1). Pigment Cell Res 7 285–290 Occurrence Handle1:CAS:528:DyaK2MXivVGqtro%3D Occurrence Handle7886000
SJ Orlow ML Lamoreux S Pifko-Hirst BK Zhou (1993) ArticleTitlePathogenesis of the platinum (cP) mutation, a model for oculocutaneous albinism. J Invest Dermatol 101 137–140 Occurrence Handle1:CAS:528:DyaK3sXmt1ensbk%3D Occurrence Handle7688401
WE Petersen LO Gilmore JB Fitch (1944) ArticleTitleAlbinism in cattle. J Hered 35 135–144
W Schleger (1959) ArticleTitleAuftreten eines Albinokalbes bei der Murbodnerrasse. Wien Tieraerztl Monschr 46 196–199
BH Schmidtz FC Buchanan Y Plante SM Schmutz (2001) ArticleTitleLinkage mpping of the tyrosinase gene to bovine chromosome 29. Anim Genet 32 119–120 Occurrence Handle10.1046/j.1365-2052.2001.0700j.x Occurrence Handle1:CAS:528:DC%2BD3MXltFajsb8%3D
SM Schmutz FLS Marquess TG Berryere JS Moker (1995) ArticleTitleDNA marker assisted selection of the polled condition in Charolais cattle. Mamm Genome 6 710–713 Occurrence Handle1:CAS:528:DyaK2MXpsVCgt74%3D Occurrence Handle8563169
RA Spritz L Ho M Furumura VJ Hearing (1997) ArticleTitleMutational analysis of copper binding by human tyrosinase. J Invest Dermatol 109 207–212 Occurrence Handle1:CAS:528:DyaK2sXltlKjurs%3D Occurrence Handle9242509
Y Tomita AO Takeda H Tagami S Shibahara (1989) ArticleTitleHuman oculocutaneous albinism caused by a single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 164 990–996 Occurrence Handle1:CAS:528:DyaK3cXkslajurw%3D Occurrence Handle2511845
HU Winzenried JJ Lauvergne (1970) ArticleTitleSpontanes Auftreten von Albinos in der Schweizerischen Braunviehrasse. Schweiz Arch Tierheilkd 112 581–587 Occurrence Handle1:STN:280:CS6B38bltVU%3D Occurrence Handle5519160
CJ Witkop JG White WE Nance RE Umber (1972) Mutations in the melanin pigment system in man resulting in features of oculocutaneous abinism. V Umber (Eds) Pigmentation - Its Genesis and Biological Control. Appleton Century Crofts New York 359–377
T Yokoyama DW Silversides KG Waymire BS Kwon T Takeuchi et al. (1990) ArticleTitleConserved cysteine to serine mutation in tyrosinase is responsible for the classical albino mutation in laboratory mice. Nucleic Acids Res 18 7293–7298 Occurrence Handle1:CAS:528:DyaK3MXls1OksQ%3D%3D Occurrence Handle2124349
Acknowledgements
We thank the Saskatchewan Agriculture Development Fund for funding. We are grateful to Darrell Workman, who donated the original albino calf, and to Tommy Clark, who provided additional samples from related cattle. We are indebted to Ingeborg Roewer for careful and patient sequencing and to Kyong Blakeman for technical support. We thank Leif Andersson for helpful discussions about these data.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Schmutz, S.M., Berryere, T.G., Ciobanu, D.C. et al. A form of albinism in cattle is caused by a tyrosinase frameshift mutation . Mamm Genome 15, 62–67 (2004). https://doi.org/10.1007/s00335-002-2249-5
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/s00335-002-2249-5