Association of Melanophilin (MLPH) gene polymorphism with coat colour in Rex rabbits

Abstract

Rex rabbit, with multiple phenotypes and colourful fur, is an interesting model for assessing the effect of coat colour gene mutations on characteristic pigmentation phenotype. Based on previous study, the <em>melanophilin</em> (<em>MLPH</em>) gene is a positional candidate gene related coat colour dilution. The fur colours are a lighter shade, e.g. grey instead of black. We sequenced 1689 base pairs of the <em>MLPH</em> gene in Chinchilla and black Rex rabbit. A total of 13 polymorphisms were identified, including seven missense mutations. The rabbit <em>MLPH</em> gene has a very high GC content and the protein shows 64.87% identity to the orthologous human protein (lack of homologous amino acids encoded by human MLPH exon 9). Hardy-Weinberg test showed that, except for the g.606C>A single nucleotid polymorphism (SNP), all other SNPs were in Hardy-Weinberg equilibrium. Haplotype analysis revealed that the seven missense mutation SNPs of two strains of Rex rabbits formed 10 haplotypes, but there were only seven major types of haplotypes (haplotype frequency <em>P</em>>0.05). The major haplotypes of the Chinchilla and black Rex rabbits were H1/H2/H3/H4/H5 and H1/H2/H3/H6/H8, respectively. The special haplotypes of Chinchilla Rex rabbit (H4, H5, H7) were consistently associated with the Chinchilla phenotype. This study provides evidence that different coat colour formation may be caused by one or more mutations within <em>MLPH</em> gene in several Rex rabbit strains. The data on polymorphisms that are associated with the Chinchilla phenotype facilitate the breeding of rabbits with defined coat colours.

Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits

“…Two exon skipping and a frameshift mutation within the melanophilin (MLPH) gene are associated with coat color dilution in rabbits (Lehner et al, 2013;Fontanesi et al, 2014). However, these previously reported mutations associated with coat color dilution in rabbits were not identified in the Chinchilla populations investigated here (Li et al, 2020). Moreover, the mutations in exons of the MLPH gene were detected in the DCh group ( Supplementary Table 1).…”

Insights Into the Albinism Mechanism for Two Distinct Color Morphs of Northern Snakehead, Channa argus Through Histological and Transcriptome Analyses

“…In order to verify the RNA-seq results, ten pigment-related genes (Casp et al, 2002;Bhoumik et al, 2007;Mirmohammadsadegh et al, 2010;Liu et al, 2013;Hammam et al, 2014;Wang et al, 2017;Yang et al, 2018;Li et al, 2020) were selected to quantify their mRNA expression levels in the skin of two distinct color morphs of C. argus by using qRT-PCR (Figure 11). The expressions of all the selected genes of BT were extremely higher than that of AT, consistent with the results obtained through transcriptome analysis.…”

“…Meanwhile, the MITF is an upstream TF that can directly regulate the TYR gene (Bharti et al, 2012;Raviv et al, 2014), and some genes such as SOX10, MAPK, CATs act directly or indirectly on the MITF gene to regulate the development, growth and differentiation melanocytes (Hou et al, 2000). In addition, the MLPH, CHP2, and EpoR play roles in the formation, transportation, development and other processes of pigment cells and melanoma (Bhoumik et al, 2007;Liu et al, 2013;Hammam et al, 2014;Li et al, 2020). Previous studies showed that the differential expression of albino-related genes regulated the development and differentiation of body color, and over 95 and 38 body color development related genes were found in zebrafish and Oryziaslatipes (Hidehito et al, 1994;Dooley et al, 2013).…”

“…are the core transport regulators in pigment cell development, the MITF activates TYR gene expression by acting on the TYR promoter E-box, and SOX10 acts as a powerful activator to directly regulate the expression of MITF (Lang et al, 2005;Sarkar and Hochedlinger, 2013). Meanwhile, the MLPH-1 and -2 also act as linker proteins between the melanosome and MYO5A-bound actin filament (Provance et al, 2002;Kuroda et al, 2003;Li et al, 2020). Melanocortin 1 receptor (MC1R) plays a key role in the differentiation of adult melanocytes (Ozdeslik et al, 2019).…”