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Integrative analysis of histomorphology, transcriptome and whole genome resequencing identified DIO2 gene as a crucial gene for the protuberant knob located on forehead in geese

文献类型： 外文期刊

作者： Deng, Yan 1 ; Hu, Shenqiang 1 ; Luo, Chenglong 2 ; Ouyang, Qingyuan 1 ; Li, Li 1 ; Ma, Jiaming 1 ; Lin, Zhenping 3 ; Chen 1 ;

作者机构： 1.Sichuan Agr Univ, Farm Anim Genet Resources Explorat & Innovat Key, Chengdu 611130, Sichuan, Peoples R China

2.Guangdong Acad Agr Sci, Inst Anim Sci, Guangzhou 510640, Guangdong, Peoples R China

3.Baisha Livestock & Poultry Original Species Res I, Shantou 515000, Guangdong, Peoples R China

4.Yangzhou Univ, Jiangsu Key Lab Anim Genet Breeding & Mol Design, Yangzhou 225009, Jiangsu, Peoples R China

关键词： Cranial appendage; Knob; Histomorphology; Genetic mechanism; DIO2; Goose

期刊名称：BMC GENOMICS （ 影响因子：3.969； 五年影响因子：4.478 ）

ISSN： 1471-2164

年卷期： 2021 年 22 卷 1 期

页码：

收录情况： SCI

摘要： BackgroundDuring domestication, remarkable changes in behavior, morphology, physiology and production performance have taken place in farm animals. As one of the most economically important poultry, goose owns a unique appearance characteristic called knob, which is located at the base of the upper bill. However, neither the histomorphology nor the genetic mechanism of the knob phenotype has been revealed in geese.ResultsIn the present study, integrated radiographic, histological, transcriptomic and genomic analyses revealed the histomorphological characteristics and genetic mechanism of goose knob. The knob skin was developed, and radiographic results demonstrated that the knob bone was obviously protuberant and pneumatized. Histologically, there were major differences in structures in both the knob skin and bone between geese owing knob (namely knob-geese) and those devoid of knob (namely non-knob geese). Through transcriptome analysis, 592 and 952 genes differentially expressed in knob skin and bone, and significantly enriched in PPAR and Calcium pathways in knob skin and bone, respectively, which revealed the molecular mechanisms of histomorphological differences of the knob between knob- and non-knob geese. Furthermore, integrated transcriptomic and genomic analysis contributed to the identification of 17 and 21 candidate genes associated with the knob formation in the skin and bone, respectively. Of them, DIO2 gene could play a pivotal role in determining the knob phenotype in geese. Because a non-synonymous mutation (c.642,923 G>A, P265L) changed DIO2 protein secondary structure in knob geese, and Sanger sequencing further showed that the AA genotype was identified in the population of knob geese, and was prevalent in a crossing population which was artificially selected for 10 generations.ConclusionsThis study was the first to uncover the knob histomorphological characteristics and genetic mechanism in geese, and DIO2 was identified as the crucial gene associated with the knob phenotype. These data not only expand and enrich our knowledge on the molecular mechanisms underlying the formation of head appendages in both mammalian and avian species, but also have important theoretical and practical significance for goose breeding.

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