Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting.
Anim Genet
; 47(1): 91-101, 2016 Feb.
Article
em En
| MEDLINE
| ID: mdl-26568529
ABSTRACT
Leopard complex spotting (LP), the result of an incompletely dominant mutation in TRPM1, produces a collection of unique depigmentation patterns in the horse. Although the LP mutation allows for expression of the various patterns, other loci are responsible for modification of the extent of white. Pedigree analysis of families segregating for high levels of patterning indicated a single dominant gene, named Pattern-1 (PATN1), as a major modifier of LP. Linkage analysis in two half-sibling families segregating for PATN1 identified a 15-Mb region on ECA3p that warranted further investigation. Whole transcriptome sequencing of skin samples from horses with and without the PATN1 allele was performed to identify genic SNPs for fine mapping. Two Sequenom assays were utilized to genotype 192 individuals from five LP-carrying breeds. The initial panel highlighted a 1.6-Mb region without a clear candidate gene. In the second round of fine mapping, SNP ECA323 658 447T>G in the 3'-UTR of RING finger and WD repeat domain 3 (RFWD3) reached a significance level of P = 1.063 × 10(-39). Sequencing of RFWD3 did not identify any coding polymorphisms specific to PATN1 horses. Genotyping of the RFWD3 3'-UTR SNP in 54 additional LP animals and 327 horses from nine breeds not segregating for LP further supported the association (P = 4.17 × 10(-115)). This variant is a strong candidate for PATN1 and may be particularly useful for LP breeders to select for high levels of white patterning.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cor de Cabelo
/
Polimorfismo de Nucleotídeo Único
/
Ubiquitina-Proteína Ligases
/
Cavalos
Tipo de estudo:
Risk_factors_studies
Limite:
Animals
Idioma:
En
Revista:
Anim Genet
Assunto da revista:
GENETICA
/
MEDICINA VETERINARIA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Estados Unidos