Biology Faculty Articles
Title
A Homozygous Single-Base Deletion in MLPH Causes the Dilute Coat Color Phenotype in the Domestic Cat
Document Type
Article
Publication Date
12-2006
Publication Title
Genomics
Keywords
dilute, Linkage mapping, Microsatellite, Melanophilin (MLPH), Domestic cat, Coat color, Pigmentation, Eumelanin, Phaeomelanin
ISSN
0888-7543
Volume
88
Issue/No.
6
First Page
698
Last Page
705
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 (θ = 0.08, LOD = 10.81). 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 MLPH (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.
Additional Comments
GenBank accession #s: DQ469741-DQ469742
NSUWorks Citation
Ishida, Yasuko; Victor A. David; Eduardo Eizirik; Alejandro A. Schaffer; Beena A. Neelam; Melody E. Roelke; Steven S. Hannah; Stephen J. O'Brien; and Marilyn Menotti-Raymond. 2006. "A Homozygous Single-Base Deletion in MLPH Causes the Dilute Coat Color Phenotype in the Domestic Cat." Genomics 88, (6): 698-705. https://nsuworks.nova.edu/cnso_bio_facarticles/514
ORCID ID
0000-0001-7353-8301
ResearcherID
N-1726-2015
Comments
©2006 Elsevier Inc. All rights reserved.