| 摘要: |
| 【目的】研究角蛋白关联蛋白（keratin associated proteins，KAPs）编码基因的遗传变异对绒毛性状的影响，以丰富绵羊功能基因组学并开发基因标记。【方法】采用PCR-SSCP和DNA测序技术，检测KAP20-1编码基因（KRTAP20-1）在甘肃高山细毛羊（细毛羊）、青海半细毛羊（半细毛羊）和藏绵羊（粗毛羊）3个群体中的变异情况；利用实时荧光定量PCR（qRT-PCR）技术，检测KRTAP20-1基因在甘肃高山细毛羊、小尾寒羊（粗毛羊）成年母羊和羔羊不同组织中的表达情况。【结果】3个绵羊群体KRTAP20-1基因共检测到4个SNPs，其中3个为非同义突变导致氨基酸的改变（P.Gly10Ser、P.Tyr29Phe和P.Ser61Gly），1个为同义突变。等位基因A在3个绵羊群体中均为优势等位基因，其余3个等位基因在不同绵羊群体中分布差异较大。甘肃高山细毛羊KRTAP20-1基因的遗传杂合度、有效等位基因数和多态信息含量均高于其他2个群体。KRTAP20-1基因只在绵羊皮肤中表达，在其他组织中均无表达；在小尾寒羊和甘肃高山细毛羊2个群体中，羔羊皮肤组织中KRTAP20-1表达量均高于母羊，且在小尾寒羊皮肤组织中的表达量高于同期甘肃高山细毛羊，即表现出明显的群体差异性和时空差异性。【结论】绵羊KRTAP20-1基因在不同用途毛用绵羊中的等位基因分布差异及组织表达的种群特异性和时空特异性提示，该基因对羊毛相关性状的形成和表型均有影响。 |
| 关键词: 绵羊 KRTAP20-1基因 基因表达 羊毛性状 |
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| 基金项目:甘肃省基础研究创新群体计划项目(17JR5RA137，18JR3RA190)；甘肃省科技计划项目(18YF1WA082) |
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| Characteristics of genetic variation and expression in different tissues of ovine KRTAP20-1 gene （Ovis aries） |
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LI Tao,LI Shaobin,WANG Jiqing,et al
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| Abstract: |
| 【Objective】This study investigated the effects of genetic variation of keratin associated proteins (KAPs) coding gene on wool and cashmere traits to enrich ovine functional genomics and develop genetic markers.【Method】Using Polymerase Chain Reaction Single Strand Conformation Polymorphism (PCR-SSCP) and DNA sequencing technology,KRTAP20-1 gene variation and distribution in different groups of Gansu Alpine Merino (fine wool sheep),Qinghai Semi-fine wool sheep (semi-fine wool sheep) and Tibetan sheep (coarse wool) were detected.The quantitative real-time PCR (qRT-PCR) was used to detect the expression and distribution of KRTAP20-1 gene in different tissues of Gansu Alpine Merino (fine wool sheep) and small-tailed Han sheep (coarse wool).【Result】 Four single nucleotide polymorphisms (SNPs) were detected in KRTAP20-1 gene of sheep,and three of them were non synonymous mutations causing amino acid changes (P.Gly10Ser, P.Tyr29Phe and P.Ser61Gly) and one was synonymous mutation.The allele A was dominant in the three sheep populations,and other alleles were significantly distributed differently between these sheep breeds.Population genetic analysis indicated that Qinghai Semi-fine wool sheep had higher genetic heterozygosity,effective allele number and polymorphism information content of KRTAP20-1 gene than others.The gene was only expressed in skin tissue.The expression level in lamb skin tissue of the two sheep breeds was higher than that in ewes,and the expression level of small-tailed Han sheep was higher than Gansu Alpine Merino at same age.【Conclusion】The KRTAP20-1 gene showed differences in allele distribution and breed specificity and time-space specificity on tissue expression,suggesting that this gene may have influence on formation and phenotype of wool related traits. |
| Key words: sheep KRTAP20-1 gene gene expression wool traits |
