Gene duplication of endothelin 3 is closely correlated with the hyperpigmentation of the internal organs (fibromelanosis) in silky chickens

Ai Shinomiya, Yasunari Kayashima, Keiji Kinoshita, Makoto Mizutani, Takao Namikawa, Yoichi Matsuda, Toyoko Akiyama

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

During early development in vertebrates, pluripotent cells are generated from the neural crest and migrate according to their presumptive fate. In birds and mammals, one of the progeny cells, melanoblasts, generally migrate through a dorsolateral route of the trunk region and differentiate to melanocytes. However, Silky is an exceptional chicken in which numerous melanoblasts travel via a ventral pathway and disperse into internal organs. Finally, these ectopic melanocytes induce heavy dermal and visceral melanization known as Fibromelanosis (Fm). To identify the genetic basis of this phenotype, we confirmed the mode of inheritance of Fm as autosomal dominant and then performed linkage analysis with microsatellite markers and sequence-tagged site markers. Using 85 backcross progeny from crossing Black Minorca chickens (BM-C) with F1 individuals between White Silky (WS) and BM-C Fm was located on 10.2-11.7 Mb of chicken chromosome 20. In addition, we noticed a DNA marker that all Silky chickens and the F1 individuals showed heterozygous genotyping patterns, suggesting gene duplication in the Fm region. By quantitative real-time PCR assay, Silky line-specific gene duplication was detected as an ̃130-kb interval. It contained five genes including endothelin 3 (EDN3), which encoded a potent mitogen for melanoblasts/melanocytes. EDN3 with another three of these duplicated genes in Silky chickens expressed almost twofold of those in BM-C. Present results strongly suggest that the increase of the expression levels resulting from the gene duplication in the Fm region is the trigger of hypermelanization in internal organs of Silky chickens.

Original languageEnglish
Pages (from-to)627-638
Number of pages12
JournalGenetics
Volume190
Issue number2
DOIs
Publication statusPublished - 2012 Feb
Externally publishedYes

Fingerprint

Endothelin-3
Hyperpigmentation
Gene Duplication
Chickens
Melanocytes
Sequence Tagged Sites
Chromosomes, Human, Pair 20
Neural Crest
Genetic Markers
Mitogens
Microsatellite Repeats
Genes
Birds
Vertebrates
Real-Time Polymerase Chain Reaction
Mammals
Phenotype
Skin

ASJC Scopus subject areas

  • Genetics

Cite this

Shinomiya, A., Kayashima, Y., Kinoshita, K., Mizutani, M., Namikawa, T., Matsuda, Y., & Akiyama, T. (2012). Gene duplication of endothelin 3 is closely correlated with the hyperpigmentation of the internal organs (fibromelanosis) in silky chickens. Genetics, 190(2), 627-638. https://doi.org/10.1534/genetics.111.136705

Gene duplication of endothelin 3 is closely correlated with the hyperpigmentation of the internal organs (fibromelanosis) in silky chickens. / Shinomiya, Ai; Kayashima, Yasunari; Kinoshita, Keiji; Mizutani, Makoto; Namikawa, Takao; Matsuda, Yoichi; Akiyama, Toyoko.

In: Genetics, Vol. 190, No. 2, 02.2012, p. 627-638.

Research output: Contribution to journalArticle

Shinomiya, A, Kayashima, Y, Kinoshita, K, Mizutani, M, Namikawa, T, Matsuda, Y & Akiyama, T 2012, 'Gene duplication of endothelin 3 is closely correlated with the hyperpigmentation of the internal organs (fibromelanosis) in silky chickens', Genetics, vol. 190, no. 2, pp. 627-638. https://doi.org/10.1534/genetics.111.136705
Shinomiya, Ai ; Kayashima, Yasunari ; Kinoshita, Keiji ; Mizutani, Makoto ; Namikawa, Takao ; Matsuda, Yoichi ; Akiyama, Toyoko. / Gene duplication of endothelin 3 is closely correlated with the hyperpigmentation of the internal organs (fibromelanosis) in silky chickens. In: Genetics. 2012 ; Vol. 190, No. 2. pp. 627-638.
@article{d23862a3ea5f4f338f8f96bae2a4e19d,
title = "Gene duplication of endothelin 3 is closely correlated with the hyperpigmentation of the internal organs (fibromelanosis) in silky chickens",
abstract = "During early development in vertebrates, pluripotent cells are generated from the neural crest and migrate according to their presumptive fate. In birds and mammals, one of the progeny cells, melanoblasts, generally migrate through a dorsolateral route of the trunk region and differentiate to melanocytes. However, Silky is an exceptional chicken in which numerous melanoblasts travel via a ventral pathway and disperse into internal organs. Finally, these ectopic melanocytes induce heavy dermal and visceral melanization known as Fibromelanosis (Fm). To identify the genetic basis of this phenotype, we confirmed the mode of inheritance of Fm as autosomal dominant and then performed linkage analysis with microsatellite markers and sequence-tagged site markers. Using 85 backcross progeny from crossing Black Minorca chickens (BM-C) with F1 individuals between White Silky (WS) and BM-C Fm was located on 10.2-11.7 Mb of chicken chromosome 20. In addition, we noticed a DNA marker that all Silky chickens and the F1 individuals showed heterozygous genotyping patterns, suggesting gene duplication in the Fm region. By quantitative real-time PCR assay, Silky line-specific gene duplication was detected as an ̃130-kb interval. It contained five genes including endothelin 3 (EDN3), which encoded a potent mitogen for melanoblasts/melanocytes. EDN3 with another three of these duplicated genes in Silky chickens expressed almost twofold of those in BM-C. Present results strongly suggest that the increase of the expression levels resulting from the gene duplication in the Fm region is the trigger of hypermelanization in internal organs of Silky chickens.",
author = "Ai Shinomiya and Yasunari Kayashima and Keiji Kinoshita and Makoto Mizutani and Takao Namikawa and Yoichi Matsuda and Toyoko Akiyama",
year = "2012",
month = "2",
doi = "10.1534/genetics.111.136705",
language = "English",
volume = "190",
pages = "627--638",
journal = "Genetics",
issn = "0016-6731",
publisher = "Genetics Society of America",
number = "2",

}

TY - JOUR

T1 - Gene duplication of endothelin 3 is closely correlated with the hyperpigmentation of the internal organs (fibromelanosis) in silky chickens

AU - Shinomiya, Ai

AU - Kayashima, Yasunari

AU - Kinoshita, Keiji

AU - Mizutani, Makoto

AU - Namikawa, Takao

AU - Matsuda, Yoichi

AU - Akiyama, Toyoko

PY - 2012/2

Y1 - 2012/2

N2 - During early development in vertebrates, pluripotent cells are generated from the neural crest and migrate according to their presumptive fate. In birds and mammals, one of the progeny cells, melanoblasts, generally migrate through a dorsolateral route of the trunk region and differentiate to melanocytes. However, Silky is an exceptional chicken in which numerous melanoblasts travel via a ventral pathway and disperse into internal organs. Finally, these ectopic melanocytes induce heavy dermal and visceral melanization known as Fibromelanosis (Fm). To identify the genetic basis of this phenotype, we confirmed the mode of inheritance of Fm as autosomal dominant and then performed linkage analysis with microsatellite markers and sequence-tagged site markers. Using 85 backcross progeny from crossing Black Minorca chickens (BM-C) with F1 individuals between White Silky (WS) and BM-C Fm was located on 10.2-11.7 Mb of chicken chromosome 20. In addition, we noticed a DNA marker that all Silky chickens and the F1 individuals showed heterozygous genotyping patterns, suggesting gene duplication in the Fm region. By quantitative real-time PCR assay, Silky line-specific gene duplication was detected as an ̃130-kb interval. It contained five genes including endothelin 3 (EDN3), which encoded a potent mitogen for melanoblasts/melanocytes. EDN3 with another three of these duplicated genes in Silky chickens expressed almost twofold of those in BM-C. Present results strongly suggest that the increase of the expression levels resulting from the gene duplication in the Fm region is the trigger of hypermelanization in internal organs of Silky chickens.

AB - During early development in vertebrates, pluripotent cells are generated from the neural crest and migrate according to their presumptive fate. In birds and mammals, one of the progeny cells, melanoblasts, generally migrate through a dorsolateral route of the trunk region and differentiate to melanocytes. However, Silky is an exceptional chicken in which numerous melanoblasts travel via a ventral pathway and disperse into internal organs. Finally, these ectopic melanocytes induce heavy dermal and visceral melanization known as Fibromelanosis (Fm). To identify the genetic basis of this phenotype, we confirmed the mode of inheritance of Fm as autosomal dominant and then performed linkage analysis with microsatellite markers and sequence-tagged site markers. Using 85 backcross progeny from crossing Black Minorca chickens (BM-C) with F1 individuals between White Silky (WS) and BM-C Fm was located on 10.2-11.7 Mb of chicken chromosome 20. In addition, we noticed a DNA marker that all Silky chickens and the F1 individuals showed heterozygous genotyping patterns, suggesting gene duplication in the Fm region. By quantitative real-time PCR assay, Silky line-specific gene duplication was detected as an ̃130-kb interval. It contained five genes including endothelin 3 (EDN3), which encoded a potent mitogen for melanoblasts/melanocytes. EDN3 with another three of these duplicated genes in Silky chickens expressed almost twofold of those in BM-C. Present results strongly suggest that the increase of the expression levels resulting from the gene duplication in the Fm region is the trigger of hypermelanization in internal organs of Silky chickens.

UR - http://www.scopus.com/inward/record.url?scp=84857438104&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84857438104&partnerID=8YFLogxK

U2 - 10.1534/genetics.111.136705

DO - 10.1534/genetics.111.136705

M3 - Article

VL - 190

SP - 627

EP - 638

JO - Genetics

JF - Genetics

SN - 0016-6731

IS - 2

ER -