A mutation in the MATP gene causes the cream coat colour in the horse

Mariat, Denis; Taourit, Séad; Guérin, Gérard

doi:10.1186/1297-9686-35-1-119

Cited by 115 publications

(69 citation statements)

References 30 publications

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“…This phenotypic effect is well documented in previous ultrastructural characterization of melanosomes from Silver and non-Silver birds (Brumbaugh 1971). A dilution of red pigment with no or only a minor effect on black pigment is also observed in horses heterozygous for a D153N mutation in SLC45A2 (Mariat et al 2003). Horses homozygous for this mutation, though, have blue eyes and very little coat pigmentation as a result of a considerable dilution of both red and black pigments.…”

Section: Discussionmentioning

confidence: 62%

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Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail

et al. 2007

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S *S (Silver), S *N (wild type/gold), and S *AL (sex-linked imperfect albinism) form a series of alleles at the S (Silver) locus on chicken (Gallus gallus) chromosome Z. Similarly, sex-linked imperfect albinism (AL*A) is the bottom recessive allele at the orthologous AL locus in Japanese quail (Coturnix japonica). The solute carrier family 45, member 2, protein (SLC45A2), previously denoted membrane-associated transporter protein (MATP), has an important role in vesicle sorting in the melanocytes. Here we report five SLC45A2 mutations. The 106delT mutation in the chicken S *AL allele results in a frameshift and a premature stop codon and the corresponding mRNA appears to be degraded by nonsense-mediated mRNA decay. A splice-site mutation in the Japanese quail AL*A allele causes in-frame skipping of exon 4. Two independent missense mutations (Tyr277Cys and Leu347Met) were associated with the Silver allele in chicken. The functional significance of the former mutation, associated only with Silver in White Leghorn, is unclear. Ala72Asp was associated with the cinnamon allele (AL*C ) in the Japanese quail. The most interesting feature concerning the SLC45A2 variants documented in this study is the specific inhibition of expression of red pheomelanin in Silver chickens. This phenotypic effect cannot be explained on the basis of the current, incomplete, understanding of SLC45A2 function. It is an enigma why recessive null mutations at this locus cause an almost complete absence of both eumelanin and pheomelanin whereas some missense mutations are dominant and cause a specific inhibition of pheomelanin production.

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Section: Discussionmentioning

confidence: 62%

“…SLC45A2 mutations have been found in medaka (Fukamachi et al 2001), humans (Newton et al 2001), mouse (Newton et al 2001;Du and Fisher 2002), and horse (Mariat et al 2003). Oculocutaneous albinism type IV (OCA4) in humans is caused by mutations in SLC45A2 (Newton et al 2001).…”

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confidence: 99%

Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail

et al. 2007

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“…The tyrosinase gene is mutated in chinchilla mice [2,19]. The solute carrier family 45, member 2 (SLC45A2) gene is mutated in horses with a cream coat [12], and in human oculocutaneous albinism type 4 [14]. However, in domestic dogs, Shumutz and Berryere reported that, although they found several polymorphisms in cDNA sequences from tyrosinase and SLC45A2 genes, no pormorphism was consistently associated with cream dogs or cosegregated with a cream coat [16].…”

Section: Discussionmentioning

confidence: 99%

Mutations in the Melanocortin 1 Receptor, .BETA.-Defensin103 and Agouti Signaling Protein Genes, and Their Association with Coat Color Phenotypes in Akita-Inu Dogs

et al. 2011

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ABSTRACT. To identify factors that control coat color in Akita-inu dogs, we sequenced all the exons of the melanocortin 1 receptor (MC1R), -defensin103 (CBD103) and agouti signaling protein (ASIP) genes of dogs with four distinct coat colors, namely, brindle, sesame, red and white. Then we examined correlations among specific alleles and coat color. In the case of the MC1R gene, all white dogs were homozygous for a nonsense mutation, R306ter, while brindle, sesame, and red dogs had at least one R306 allele. In the case of the CBD103 gene, all brindle dogs were heterozygous for the G23del mutation (deletion of codon 23, encoding glycine), while all sesame and red dogs were homozygous for G23. In the case of the ASIP gene, all dogs, regardless of coat color, had at least one S82 H83 allele. A missense mutation in the ASIP gene, P87L, was identified for the first time in some Akita-inu dogs but was not associated with any specific coloration. Our results indicate that the 2 key mutations, R306ter in the MC1R gene and G23del in the CBD103 gene, are associated with the phenotypic discriminations among brindle, red/sesame, and white coats, while no mutation that might potentially be associated with the discrimination of a sesame coat from a red coat is present in the coding sequences of these three genes.

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“…The glycine residue at position 366 in suncus SLC45A2, which is replaced by glutamate in the albinolike suncus, is conserved in all species (medaka fish, mouse, human, horse, chicken, Japanese quail, pig, and dog) for which the sequence of the homologous protein has been determined [9,10,26,27,33,37]. According to the molecular models reported to date, this glycine residue is located at the first position of the eighth transmembrane domain.…”

Section: Discussionmentioning

confidence: 99%

Oculocutaneous Albinism in Suncus murinus: Establishment of a Strain and Identification of Its Responsible Gene

et al. 2009

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Abstract:The house musk shrew Suncus murinus (Insectivora, Soricidae) is referred to as suncus in a laboratory context. Although the capture of albino-like shrews (wild suncus) has been reported previously, albino-like strains have never been established, and the molecular basis of the character has remained elusive. We have established an OCAO mutant strain (oculocutaneous albinism Okinawa), from a wild suncus with a white coat and red eyes, which was captured in 2002. During the course of establishing the strain, it was revealed that the albino-like phenotype was inherited in an autosomal recessive manner. To elucidate the molecular basis of this phenotype, we cloned the suncus cDNAs for tyrosinase (Tyr), pinkeyed dilution (p), and solute carrier family 45, member 2 (Slc45a2), since these genes are involved in oculocutaneous albinism in various species, including humans. Several polymorphisms were identified in these genes; however, linkage analysis excluded the involvement of Tyr and p. On the other hand, two amino acid substitutions (V240A and G366E) were identified in Slc45a2 that cosegregated with the phenotype in the OCAO mutant strain. While V240A was also present in colored suncus collected from Okinawa, G366E was unique to the albino-like suncus and heterozygous carriers. Thus, we conclude that a mutation in Slc45a2 (G366E) is responsible for an albino-like phenotype in Suncus murinus.

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A mutation in the MATP gene causes the cream coat colour in the horse

Cited by 115 publications

References 30 publications

Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail

Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail

Mutations in the Melanocortin 1 Receptor, .BETA.-Defensin103 and Agouti Signaling Protein Genes, and Their Association with Coat Color Phenotypes in Akita-Inu Dogs

Oculocutaneous Albinism in Suncus murinus: Establishment of a Strain and Identification of Its Responsible Gene

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