【摘要】：農(nóng)業(yè)動物經(jīng)歷了上千年的自然選擇和人工選擇,積累了大量的表型變異。農(nóng)業(yè)動物表型和遺傳的多樣性為我們提供了極好的研究模型,改善了我們對于動物發(fā)育和疾病發(fā)生等過程中基因功能的理解。羽毛是一種皮膚附屬物,廣泛分布于鳥類身體表面,具有各種各樣的類型和變異,是解析調(diào)控羽毛發(fā)育與分化機(jī)制的重要資源。雞的胡須(Muffs and beard, Mb)是一種在臉頰兩側(cè)(Muffs)以及頷下(Beard)著生的延長生長的羽毛類型,是一種單基因(Mb)控制的常染色體不完全顯性性狀。為了探究胡須性狀形成的遺傳學(xué)原因以及分子機(jī)制,本研究設(shè)計了以惠陽胡須雞(Huiyang Bearded, HB)和嶺南黃雞A03系(High Quility chicken Line A, HQLA)為親本的資源群體。其中,惠陽胡須雞是我國重要的地方雞種,特有的胡須性狀使其成為研究羽毛區(qū)域特異性發(fā)育與分化的理想模型；嶺南黃雞A03系是廣東省農(nóng)業(yè)科學(xué)院畜牧研究所培育的快大型肉雞品種,不具有胡須性狀。本研究以此群體為基礎(chǔ),開展遺傳定位研究工作,并對候選基因的表達(dá)及生物功能進(jìn)行分析,試圖從分子遺傳學(xué)角度對胡須性狀形成的機(jī)制進(jìn)行闡述。本研究利用全基因組關(guān)聯(lián)分析(Genome-wide association study, GWAS)、連鎖分析(Linkage analysis)、同源相同(Identity by descent, IBD)分析、比較基因組雜交芯片(Array comparative genomic hybridization, array CGH)、全基因組重測序和表達(dá)分析等技術(shù)手段來研究引起胡須性狀的致因基因。研究結(jié)果表明胡須性狀是由27號染色體上復(fù)雜結(jié)構(gòu)變異(Structural variation, SV)導(dǎo)致的,此結(jié)構(gòu)變異由位于27號染色體上1.7 Mb、3.5 Mb以及4.4 Mb位置的三個拷貝數(shù)變異(Copy number variation, CNV)組成。三個CNV以串聯(lián)的形式連接在一起,并插入1.7 Mb處CNV的下游。大量不同群體內(nèi)的診斷分析驗證了此復(fù)雜結(jié)構(gòu)變異與胡須性狀的完全關(guān)聯(lián)。此復(fù)雜結(jié)構(gòu)變異區(qū)間內(nèi)共包含七個注釋基因,對七個基因在胡須發(fā)育的不同階段基因的表達(dá)情況進(jìn)行檢測,結(jié)果表明HOXB8基因在下頷皮膚組織中連續(xù)的異位高表達(dá),強(qiáng)烈表明其在胡須性狀發(fā)育過程中具有重要作用。本研究證明了雞27號染色體上復(fù)雜的結(jié)構(gòu)變異導(dǎo)致HOXB8基因的異位表達(dá)是雞胡須性狀形成的分子機(jī)制。這為復(fù)雜結(jié)構(gòu)變異改變基因的表達(dá)模式進(jìn)而產(chǎn)生表型突變提供了又一有力的證據(jù)。除此之外,本研究結(jié)果還揭示了HOXB8基因在調(diào)控羽毛區(qū)域特異性發(fā)育過程中的重要作用。
[Abstract]:Agricultural animals have experienced thousands of years of natural selection and artificial selection, and accumulated a large number of phenotypic variation. The phenotypic and genetic diversity of agricultural animals provides us with an excellent research model and improves our understanding of gene function during animal development and disease occurrence. Feather is a kind of skin appendage, which is widely distributed on the surface of birds and has a variety of types and variations. it is an important resource to analyze and regulate the mechanism of feather development and differentiation. Chicken beard (Muffs and beard, Mb) is a long-growing feather type that grows on both sides of the cheek (Muffs) and submandibular (Beard). It is an autosomal incomplete dominant trait controlled by single gene (Mb). In order to explore the genetic causes and molecular mechanism of beard traits, a resource population with Huiyang beard chicken (Huiyang Bearded, HB) and Lingnan yellow chicken line (High Quility chicken Line A, HQLA) as parents was designed in this study. Among them, Huiyang beard chicken is an important local chicken breed in China, and its unique beard traits make it an ideal model to study the regional specific development and differentiation of feathers. Lingnan yellow chicken A03 line is a fast large broiler breed cultivated by Animal Husbandry Research Institute of Guangdong Academy of Agricultural Sciences, which does not have beard traits. In this study, genetic mapping was carried out on the basis of population, and the expression and biological function of candidate genes were analyzed in order to elucidate the mechanism of beard traits formation from the point of view of molecular genetics. In this study, the whole genome association analysis (Genome-wide association study, GWAS), linkage analysis) (Linkage analysis), homologous (Identity by descent, IBD) analysis was used to compare the genomic hybrid chip (Array comparative genomic hybridization, array CGH),. The whole genome resequencing and expression analysis were used to study the etiogenic genes causing beard traits. The results showed that beard traits were caused by complex structural variation (Structural variation, SV) on chromosome 27, which was caused by 1.7 Mb, on chromosome 27. 3. 5 Mb and 4. 4 Mb position of the three copy number variation (Copy number variation, CNV) composition. The three CNV are connected in series and inserted downstream of CNV at 1.7 Mb. A large number of diagnostic analyses in different populations confirmed the complete correlation between this complex structural variation and beard traits. There were seven comment genes in this complex structural variation interval. The expression of seven genes in different stages of whisker development was detected. The results showed that HOXB8 gene was highly expressed in the skin tissue of chin. It strongly indicates that it plays an important role in the development of beard traits. This study proved that the ectopic expression of HOXB8 gene caused by complex structural variation on chicken chromosome 27 is the molecular mechanism of the formation of chicken beard traits. This provides another powerful evidence for complex structural variation to change the expression pattern of genes and then produce phenotypic mutations. In addition, the results of this study also reveal the important role of HOXB8 gene in regulating feather region-specific development.
【學(xué)位授予單位】：中國農(nóng)業(yè)大學(xué)
【學(xué)位級別】：博士
【學(xué)位授予年份】：2016
【分類號】：S831

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