Phylogenetic Analysis of Core Melanin Synthesis Genes Provides Novel Insights Into the Molecular Basis of Albinism in Fish

Melanin is the most prevalent pigment in animals. Its synthesis involves a series of functional genes. Particularly, teleosts have more copies of these genes related to the melanin synthesis than tetrapods. Despite the increasing number of available vertebrate genomes, a few systematically genomic s...

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Main Authors: Chao Bian, Ruihan Li, Zhengyong Wen, Wei Ge, Qiong Shi
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.707228/full
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author Chao Bian
Chao Bian
Chao Bian
Ruihan Li
Ruihan Li
Zhengyong Wen
Zhengyong Wen
Wei Ge
Qiong Shi
Qiong Shi
author_facet Chao Bian
Chao Bian
Chao Bian
Ruihan Li
Ruihan Li
Zhengyong Wen
Zhengyong Wen
Wei Ge
Qiong Shi
Qiong Shi
author_sort Chao Bian
collection DOAJ
description Melanin is the most prevalent pigment in animals. Its synthesis involves a series of functional genes. Particularly, teleosts have more copies of these genes related to the melanin synthesis than tetrapods. Despite the increasing number of available vertebrate genomes, a few systematically genomic studies were reported to identify and compare these core genes for the melanin synthesis. Here, we performed a comparative genomic analysis on several core genes, including tyrosinase genes (tyr, tyrp1, and tyrp2), premelanosome protein (pmel), microphthalmia-associated transcription factor (mitf), and solute carrier family 24 member 5 (slc24a5), based on 90 representative vertebrate genomes. Gene number and mutation identification suggest that loss-of-function mutations in these core genes may interact to generate an albinism phenotype. We found nonsense mutations in tyrp1a and pmelb of an albino golden-line barbel fish, in pmelb of an albino deep-sea snailfish (Pseudoliparis swirei), in slc24a5 of cave-restricted Mexican tetra (Astyanax mexicanus, cavefish population), and in mitf of a transparent icefish (Protosalanx hyalocranius). Convergent evolution may explain this phenomenon since nonsense mutations in these core genes for melanin synthesis have been identified across diverse albino fishes. These newly identified nonsense mutations and gene loss will provide molecular guidance for ornamental fish breeding, further enhancing our in-depth understanding of human skin coloration.
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spelling doaj.art-d6a43b3e7cfd4f2f9684f34a30b321342022-12-21T22:31:07ZengFrontiers Media S.A.Frontiers in Genetics1664-80212021-08-011210.3389/fgene.2021.707228707228Phylogenetic Analysis of Core Melanin Synthesis Genes Provides Novel Insights Into the Molecular Basis of Albinism in FishChao Bian0Chao Bian1Chao Bian2Ruihan Li3Ruihan Li4Zhengyong Wen5Zhengyong Wen6Wei Ge7Qiong Shi8Qiong Shi9Faculty of Health Sciences, Centre of Reproduction, Development and Aging, University of Macau, Taipa, ChinaShenzhen Key Lab of Marine Genomics, Guangdong Provincial Key Lab of Molecular Breeding in Marine Economic Animals, Beijing Genomics Institute, BGI Academy of Marine Sciences, BGI Marine, Shenzhen, ChinaCollege of Life Sciences, University of Chinese Academy of Sciences, Beijing, ChinaShenzhen Key Lab of Marine Genomics, Guangdong Provincial Key Lab of Molecular Breeding in Marine Economic Animals, Beijing Genomics Institute, BGI Academy of Marine Sciences, BGI Marine, Shenzhen, ChinaCollege of Life Sciences, University of Chinese Academy of Sciences, Beijing, ChinaShenzhen Key Lab of Marine Genomics, Guangdong Provincial Key Lab of Molecular Breeding in Marine Economic Animals, Beijing Genomics Institute, BGI Academy of Marine Sciences, BGI Marine, Shenzhen, ChinaCollege of Life Sciences, University of Chinese Academy of Sciences, Beijing, ChinaFaculty of Health Sciences, Centre of Reproduction, Development and Aging, University of Macau, Taipa, ChinaShenzhen Key Lab of Marine Genomics, Guangdong Provincial Key Lab of Molecular Breeding in Marine Economic Animals, Beijing Genomics Institute, BGI Academy of Marine Sciences, BGI Marine, Shenzhen, ChinaCollege of Life Sciences, University of Chinese Academy of Sciences, Beijing, ChinaMelanin is the most prevalent pigment in animals. Its synthesis involves a series of functional genes. Particularly, teleosts have more copies of these genes related to the melanin synthesis than tetrapods. Despite the increasing number of available vertebrate genomes, a few systematically genomic studies were reported to identify and compare these core genes for the melanin synthesis. Here, we performed a comparative genomic analysis on several core genes, including tyrosinase genes (tyr, tyrp1, and tyrp2), premelanosome protein (pmel), microphthalmia-associated transcription factor (mitf), and solute carrier family 24 member 5 (slc24a5), based on 90 representative vertebrate genomes. Gene number and mutation identification suggest that loss-of-function mutations in these core genes may interact to generate an albinism phenotype. We found nonsense mutations in tyrp1a and pmelb of an albino golden-line barbel fish, in pmelb of an albino deep-sea snailfish (Pseudoliparis swirei), in slc24a5 of cave-restricted Mexican tetra (Astyanax mexicanus, cavefish population), and in mitf of a transparent icefish (Protosalanx hyalocranius). Convergent evolution may explain this phenomenon since nonsense mutations in these core genes for melanin synthesis have been identified across diverse albino fishes. These newly identified nonsense mutations and gene loss will provide molecular guidance for ornamental fish breeding, further enhancing our in-depth understanding of human skin coloration.https://www.frontiersin.org/articles/10.3389/fgene.2021.707228/fullmelanin synthesis pathwaycore genes for melanin synthesisalbinism phenotypenonsense mutationphylogenetic analysis
spellingShingle Chao Bian
Chao Bian
Chao Bian
Ruihan Li
Ruihan Li
Zhengyong Wen
Zhengyong Wen
Wei Ge
Qiong Shi
Qiong Shi
Phylogenetic Analysis of Core Melanin Synthesis Genes Provides Novel Insights Into the Molecular Basis of Albinism in Fish
Frontiers in Genetics
melanin synthesis pathway
core genes for melanin synthesis
albinism phenotype
nonsense mutation
phylogenetic analysis
title Phylogenetic Analysis of Core Melanin Synthesis Genes Provides Novel Insights Into the Molecular Basis of Albinism in Fish
title_full Phylogenetic Analysis of Core Melanin Synthesis Genes Provides Novel Insights Into the Molecular Basis of Albinism in Fish
title_fullStr Phylogenetic Analysis of Core Melanin Synthesis Genes Provides Novel Insights Into the Molecular Basis of Albinism in Fish
title_full_unstemmed Phylogenetic Analysis of Core Melanin Synthesis Genes Provides Novel Insights Into the Molecular Basis of Albinism in Fish
title_short Phylogenetic Analysis of Core Melanin Synthesis Genes Provides Novel Insights Into the Molecular Basis of Albinism in Fish
title_sort phylogenetic analysis of core melanin synthesis genes provides novel insights into the molecular basis of albinism in fish
topic melanin synthesis pathway
core genes for melanin synthesis
albinism phenotype
nonsense mutation
phylogenetic analysis
url https://www.frontiersin.org/articles/10.3389/fgene.2021.707228/full
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