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A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat

  1. Author:
    Ishida, Y.
    David, V. A.
    Eizirik, E.
    Schaffer, A. A.
    Neelam, B. A.
    Roelke, M. E.
    Hannah, S. S.
    O'Brien, S. J.
    Menotti-Raymond, M.

  2. Author Address

    NCI, Lab Genom Divers, Frederick, MD 21702 USA. PUCRS, Ctr Biol Genom & Mol, BR-90619900 Porto Alegre, RS, Brazil. Natl Lib Med, Natl Ctr Biotechnol Informat, NIH, Dept Hlth & Human Serv, Bethesda, MD 20894 USA. NCI, Adv Biomed Comp Ctr, SAIC Frederick, Frederick, MD 21702 USA. NCI, Lab Genom Divers, SAIC Frederick, Frederick, MD 21702 USA. Nestle Purina PetCare, St Louis, MO 63134 USA.;Ishida, Y, NCI, Lab Genom Divers, Bldg 560,Room 11-38, Frederick, MD 21702 USA.;ishiday@ncifcrf.gov raymond@ncifcrf.gov
    1. Year: 2006
    2. Date: Dec
  2. Journal: Genomics
    1. 88
    2. 6
    3. Pages: 698-705
  4. Type of Article: Article
  5. ISSN: 0888-7543
  1. Abstract:

    Three proteins have been described in humans and mice as being essential for even distribution, transport, and translocation of pigment granules, with defects in these molecules giving rise to lighter skin/coat color. The dilute phenotype in domestic cats affects both eumelanin and phaeomelanin pigment pathways; for example, black pigmentation combined with dilute appears gray and orange pigments appear cream. The dilute pigmentation segregates as a fully penetrant, autosomal recessive trait. We conducted classical linkage mapping with microsatellites in a large multigeneration pedigree of domestic cats and detected tight linkage for dilute on cat chromosome C1 (theta = 0.08, LOD = 10.8 1). Fine-mapping identified a genomic region exhibiting conserved synteny to human chromosome 2, which included one of the three dilute candidate genes, melanophilin (MLPH). Sequence analysis in dilute cats identified a single base pair deletion in exon 2 of MLPH transcripts that introduces a stop codon 11 amino acids downstream, resulting in the truncation of the bulk of the MLPH protein. The occurrence of this homozygous variant in 97 unrelated dilute cats representing 26 cat breeds and random-bred cats, along with 89 unrelated wild-type cats representing 29 breeds and random-bred cats, supports the finding that dilute is caused by this single mutation in HLPH (p < 0.00001). Single-nucleotide polymorphism analyses in dilute individuals identified a single haplotype in dilute cats, suggesting that a single mutation event in MLPH gave rise to dilute in domestic cats. (c) 2006 Elsevier Inc. All rights reserved.

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  2. DOI: 10.1016/j.ygeno.2006.06.006
  3. View record in Web of Science®
  4. WOS: 000242597500004

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