New Insights into the Melanophilin (MLPH ) Gene Affecting Coat Color Dilution in Rabbits

Genes
Julie DemarsDaniel Allain

Abstract

Coat color dilution corresponds to a specific pigmentation phenotype that leads to a dilution of wild type pigments. It affects both eumelanin and pheomelanin containing melanosomes. The mode of inheritance of the dilution phenotype is autosomal recessive. Candidate gene approaches focused on the melanophilin (MLPH) gene highlighted two variants associated with the dilution phenotype in rabbits: The c.111-5C>A variant that is located in an acceptor splice site or the c.585delG variant, a frameshift mutation. On the transcript level, the skipping of two exons has been reported as the molecular mechanism responsible for the coat color dilution. To clarify, which of the two variants represents the causal variant, (i) we analyzed their allelic segregation by genotyping Castor and Chinchilla populations, and (ii) we evaluated their functional effects on the stability of MLPH transcripts in skin samples of animals with diluted or wild type coat color. Firstly, we showed that the c.585delG variant showed perfect association with the dilution phenotype in contrast to the intronic c.111-5C>A variant. Secondly, we identified three different MLPH isoforms including the wild type isoform, the exon-skipping isoform and a retained intron iso...Continue Reading

References

Jun 3, 2000·Nature Genetics·G MénaschéG de Saint Basile
Jun 22, 2000·Proceedings of the National Academy of Sciences of the United States of America·S M WilsonN A Jenkins
Aug 16, 2001·Proceedings of the National Academy of Sciences of the United States of America·L E MatesicN A Jenkins
Aug 1, 2002·Journal of Clinical Immunology·Ozden SanalGeneviève de Saint Basile
Nov 28, 2002·American Journal of Human Genetics·Gaël MénaschéGeneviève de Saint Basile
Apr 8, 2018·Biochemical Society Transactions·Etienne RaimondeauChristiane Schaffitzel

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Citations

Jun 4, 2020·International Journal of Molecular Sciences·Joonbum LeeKichoon Lee
Jan 21, 2021·Animals : an Open Access Journal From MDPI·Xianbo JiaSongjia Lai

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Methods Mentioned

BETA
genotyping
biopsies
biopsy
PCR
PCRs

Software Mentioned

LightCycler 480
ChromasPro
Primer3plus

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