Literature DB >> 14727143

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

Sheila M Schmutz1, Tom G Berryere, Daniel C Ciobanu, Alan J Mileham, Barbara H Schmidtz, Merete Fredholm.   

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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Year:  2004        PMID: 14727143     DOI: 10.1007/s00335-002-2249-5

Source DB:  PubMed          Journal:  Mamm Genome        ISSN: 0938-8990            Impact factor:   2.957


  20 in total

1.  Tyrosinase gene variants in different rabbit strains.

Authors:  B Aigner; U Besenfelder; M Müller; G Brem
Journal:  Mamm Genome       Date:  2000-08       Impact factor: 2.957

2.  DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1).

Authors:  S T Lee; S K Park; H Lee; J S Lee; Y W Park
Journal:  Jpn J Hum Genet       Date:  1997-12

3.  Complete albinism in beef Shorthorn calves.

Authors:  H J Greene; H W Leipold; K M Gelatt; K Huston
Journal:  J Hered       Date:  1973 Jul-Aug       Impact factor: 2.645

4.  Complete albinism in a Guernsey calt.

Authors:  H W Leipold; K Huston; K N Gelatt
Journal:  J Hered       Date:  1968 May-Jun       Impact factor: 2.645

5.  [Spontaneous appearance of albinos in the brown Swiss cattle breed].

Authors:  H U Winzenried; J J Lauvergne
Journal:  Schweiz Arch Tierheilkd       Date:  1970-11       Impact factor: 0.845

6.  Mutational analysis of copper binding by human tyrosinase.

Authors:  R A Spritz; L Ho; M Furumura; V J Hearing
Journal:  J Invest Dermatol       Date:  1997-08       Impact factor: 8.551

7.  Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.

Authors:  Y Tomita; A Takeda; S Okinaga; H Tagami; S Shibahara
Journal:  Biochem Biophys Res Commun       Date:  1989-11-15       Impact factor: 3.575

8.  Pathogenesis of the platinum (cp) mutation, a model for oculocutaneous albinism.

Authors:  S J Orlow; M L Lamoreux; S Pifko-Hirst; B K Zhou
Journal:  J Invest Dermatol       Date:  1993-08       Impact factor: 8.551

9.  Mapping the bovine albino locus.

Authors:  M E Foreman; M L Lamoreux; B Kwon; J E Womack
Journal:  J Hered       Date:  1994 Jul-Aug       Impact factor: 2.645

10.  African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.

Authors:  D Durham-Pierre; J M Gardner; Y Nakatsu; R A King; U Francke; A Ching; R Aquaron; V del Marmol; M H Brilliant
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

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  18 in total

1.  Polymorphism in MC1R, TYR and ASIP genes in different colored feather chickens.

Authors:  Chao-Wu Yang; Jin-Shan Ran; Chun-Lin Yu; Mo-Han Qiu; Zeng-Rong Zhang; Hua-Rui Du; Qing-Yun Li; Xia Xiong; Xiao-Yan Song; Bo Xia; Chen-Ming Hu; Yi-Ping Liu; Xiao-Song Jiang
Journal:  3 Biotech       Date:  2019-05-06       Impact factor: 2.406

2.  A community-science approach identifies genetic variants associated with three color morphs in ball pythons (Python regius).

Authors:  Autumn R Brown; Kaylee Comai; Dominic Mannino; Haily McCullough; Yamini Donekal; Hunter C Meyers; Chiron W Graves; Hannah S Seidel
Journal:  PLoS One       Date:  2022-10-19       Impact factor: 3.752

3.  Linkage and segregation analysis of black and brindle coat color in domestic dogs.

Authors:  Julie A Kerns; Edward J Cargill; Leigh Anne Clark; Sophie I Candille; Tom G Berryere; Michael Olivier; George Lust; Rory J Todhunter; Sheila M Schmutz; Keith E Murphy; Gregory S Barsh
Journal:  Genetics       Date:  2007-05-04       Impact factor: 4.562

4.  Pigmentation formation and expression analysis of tyrosinase in Siniperca chuatsi.

Authors:  Minglin Wu; Xiaowu Chen; Kai Cui; Haiyang Li; Yangyang Jiang
Journal:  Fish Physiol Biochem       Date:  2020-03-17       Impact factor: 2.794

5.  Pigmentation in Black-boned sheep (Ovis aries): association with polymorphism of the Tyrosinase gene.

Authors:  W D Deng; D M Xi; X Gou; S L Yang; X W Shi; H M Mao
Journal:  Mol Biol Rep       Date:  2007-05-23       Impact factor: 2.316

6.  A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.

Authors:  Maria Cecília Florisbal Damé; Gildenor Medeiros Xavier; José Paes Oliveira-Filho; Alexandre Secorun Borges; Henrique Nunes Oliveira; Franklin Riet-Correa; Ana Lucia Schild
Journal:  BMC Genet       Date:  2012-07-20       Impact factor: 2.797

7.  Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation.

Authors:  D L Imes; L A Geary; R A Grahn; L A Lyons
Journal:  Anim Genet       Date:  2006-04       Impact factor: 3.169

Review 8.  A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.

Authors:  Eveline M Ibeagha-Awemu; Patrick Kgwatalala; Aloysius E Ibeagha; Xin Zhao
Journal:  Mamm Genome       Date:  2008-03-19       Impact factor: 2.957

9.  Single nucleotide polymorphisms for feed efficiency and performance in crossbred beef cattle.

Authors:  Mohammed K Abo-Ismail; Gordon Vander Voort; James J Squires; Kendall C Swanson; Ira B Mandell; Xiaoping Liao; Paul Stothard; Stephen Moore; Graham Plastow; Stephen P Miller
Journal:  BMC Genet       Date:  2014-01-30       Impact factor: 2.797

10.  Mutations of TYR and MITF Genes are Associated with Plumage Colour Phenotypes in Geese.

Authors:  Ye Wang; Si-Ming Li; Jing Huang; Shi-Yi Chen; Yi-Ping Liu
Journal:  Asian-Australas J Anim Sci       Date:  2014-06       Impact factor: 2.509

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