Albinism in the largest extant amphibian: A metabolic, endocrine, or immune problem?

BackgroundPigment regression is an intriguing phenomenon that can be caused by disorders in melanin metabolism or endocrine regulation, or by autoimmune disorders. Albino animals serve as excellent models for the study of the genetic determination of morphology, particularly the evolution of and mol...

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Main Authors: Liming Chang, Wei Zhu, Jianping Jiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Endocrinology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.1053732/full
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author Liming Chang
Wei Zhu
Jianping Jiang
author_facet Liming Chang
Wei Zhu
Jianping Jiang
author_sort Liming Chang
collection DOAJ
description BackgroundPigment regression is an intriguing phenomenon that can be caused by disorders in melanin metabolism or endocrine regulation, or by autoimmune disorders. Albino animals serve as excellent models for the study of the genetic determination of morphology, particularly the evolution of and molecular mechanisms underlying chromatophore-related diseases in animals and humans.Material and MethodsThe artificial culture of Andrias davidianus, the largest extant amphibian, is flourishing in China due to the great ecological and economic value of this animal. Approximately 0.1% of individuals express an albino phenotype accompanied by delayed somatic growth and mortality at early developmental stages. In this study, brain and skin transcriptomics were conducted to study the underlying molecular basis of the phenotype.ResultsThe results indicated decreased transcription of genes of melanin synthesis. Interestingly, MHC I isotypes and immune-related pathways accounted for the primary transcriptional differences between groups, suggesting that the albino phenotype represents a systematic immune problem to a far greater extent than a pigmentation defect. Albino individuals exhibited shifted transcription of MHC I isotypes, and the albino-specific isotype was characterized by increased charges and decreased space in the antigen- binding pocket, implying a drastic change in antigen specificity and a potential risk of autoimmune disorders.ConclusionThese results suggest an association between the albino phenotype and MHC I variants in A. davidianus, which could serve as a convenient model for vitiligo or other autoimmune diseases.
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spelling doaj.art-2a2a93c9eba34bd5af8cfc49b7c190702022-12-22T04:36:46ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922022-11-011310.3389/fendo.2022.10537321053732Albinism in the largest extant amphibian: A metabolic, endocrine, or immune problem?Liming ChangWei ZhuJianping JiangBackgroundPigment regression is an intriguing phenomenon that can be caused by disorders in melanin metabolism or endocrine regulation, or by autoimmune disorders. Albino animals serve as excellent models for the study of the genetic determination of morphology, particularly the evolution of and molecular mechanisms underlying chromatophore-related diseases in animals and humans.Material and MethodsThe artificial culture of Andrias davidianus, the largest extant amphibian, is flourishing in China due to the great ecological and economic value of this animal. Approximately 0.1% of individuals express an albino phenotype accompanied by delayed somatic growth and mortality at early developmental stages. In this study, brain and skin transcriptomics were conducted to study the underlying molecular basis of the phenotype.ResultsThe results indicated decreased transcription of genes of melanin synthesis. Interestingly, MHC I isotypes and immune-related pathways accounted for the primary transcriptional differences between groups, suggesting that the albino phenotype represents a systematic immune problem to a far greater extent than a pigmentation defect. Albino individuals exhibited shifted transcription of MHC I isotypes, and the albino-specific isotype was characterized by increased charges and decreased space in the antigen- binding pocket, implying a drastic change in antigen specificity and a potential risk of autoimmune disorders.ConclusionThese results suggest an association between the albino phenotype and MHC I variants in A. davidianus, which could serve as a convenient model for vitiligo or other autoimmune diseases.https://www.frontiersin.org/articles/10.3389/fendo.2022.1053732/fullalbinismautoimmunedisease modelgenetic polymorphismmelanintranscriptomics
spellingShingle Liming Chang
Wei Zhu
Jianping Jiang
Albinism in the largest extant amphibian: A metabolic, endocrine, or immune problem?
Frontiers in Endocrinology
albinism
autoimmune
disease model
genetic polymorphism
melanin
transcriptomics
title Albinism in the largest extant amphibian: A metabolic, endocrine, or immune problem?
title_full Albinism in the largest extant amphibian: A metabolic, endocrine, or immune problem?
title_fullStr Albinism in the largest extant amphibian: A metabolic, endocrine, or immune problem?
title_full_unstemmed Albinism in the largest extant amphibian: A metabolic, endocrine, or immune problem?
title_short Albinism in the largest extant amphibian: A metabolic, endocrine, or immune problem?
title_sort albinism in the largest extant amphibian a metabolic endocrine or immune problem
topic albinism
autoimmune
disease model
genetic polymorphism
melanin
transcriptomics
url https://www.frontiersin.org/articles/10.3389/fendo.2022.1053732/full
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AT weizhu albinisminthelargestextantamphibianametabolicendocrineorimmuneproblem
AT jianpingjiang albinisminthelargestextantamphibianametabolicendocrineorimmuneproblem