拷贝数变异(Copy number variation,CNV)是基因组结构变异(Structural variation,SV)的重要组成部分,主要指大小从1 kb到数Mb的DNA片段拷贝数改变,表现为亚显微水平的缺失和重复。有人先后应用不同的方法构建了畜禽的全基因组CNV图谱,...拷贝数变异(Copy number variation,CNV)是基因组结构变异(Structural variation,SV)的重要组成部分,主要指大小从1 kb到数Mb的DNA片段拷贝数改变,表现为亚显微水平的缺失和重复。有人先后应用不同的方法构建了畜禽的全基因组CNV图谱,并发现与色素沉积、表型性状和疾病相关的CNVs。为了更清楚地了解CNV这种结构变异,文章对近几年畜禽的CNV研究进行了较为全面的分析与阐述,结果表明:CNV分布有一定的保守性,其覆盖的序列约占基因组的30%,可用于畜禽基因组结构特征研究。展开更多
The rationale of this work is based on recent evidences suggesting that: 1) both qualitative and quantitative β-lactoglobulin (β-LG) polymorphism may be found in bovine milk;2) quantitative polymorphisms are often t...The rationale of this work is based on recent evidences suggesting that: 1) both qualitative and quantitative β-lactoglobulin (β-LG) polymorphism may be found in bovine milk;2) quantitative polymorphisms are often the result of expression gradients in multiple copies of a gene;3) the β-LG gene is duplicated in the dog and bovine genome;4) mammary genes are highly conserved across Mammalia. Thus, an investigation was conducted on ovine β-LG polymorphism checking phenotypic evidence for copy-number variants of β-LG in sheep. To the purpose, 206 milk samples were collected, during a small-scale survey within sheep farms breeding Southern Italian breeds. PAGIF screening of the samples revealed that approximately 50% individuals exhibited β-LG polymorphism and 4 different quantitative patterns, which were characterized in detail by a proteomic approach relying on combined chromatographic and mass spectrometric techniques. The expected figures based on the expression gradient models were compared with well-established α-globin gene arrangements in sheep. The different phenotypes suggest the presence of both duplicate and triplicate BLG haplotypes. The occurrence of a triplicate haplotype was supported by population data. The current study supports the helpfulness of up-to-date proteomics for inferring copy number polymorphisms through the characterization of the phenotypic expression.展开更多
文摘拷贝数变异(Copy number variation,CNV)是基因组结构变异(Structural variation,SV)的重要组成部分,主要指大小从1 kb到数Mb的DNA片段拷贝数改变,表现为亚显微水平的缺失和重复。有人先后应用不同的方法构建了畜禽的全基因组CNV图谱,并发现与色素沉积、表型性状和疾病相关的CNVs。为了更清楚地了解CNV这种结构变异,文章对近几年畜禽的CNV研究进行了较为全面的分析与阐述,结果表明:CNV分布有一定的保守性,其覆盖的序列约占基因组的30%,可用于畜禽基因组结构特征研究。
文摘The rationale of this work is based on recent evidences suggesting that: 1) both qualitative and quantitative β-lactoglobulin (β-LG) polymorphism may be found in bovine milk;2) quantitative polymorphisms are often the result of expression gradients in multiple copies of a gene;3) the β-LG gene is duplicated in the dog and bovine genome;4) mammary genes are highly conserved across Mammalia. Thus, an investigation was conducted on ovine β-LG polymorphism checking phenotypic evidence for copy-number variants of β-LG in sheep. To the purpose, 206 milk samples were collected, during a small-scale survey within sheep farms breeding Southern Italian breeds. PAGIF screening of the samples revealed that approximately 50% individuals exhibited β-LG polymorphism and 4 different quantitative patterns, which were characterized in detail by a proteomic approach relying on combined chromatographic and mass spectrometric techniques. The expected figures based on the expression gradient models were compared with well-established α-globin gene arrangements in sheep. The different phenotypes suggest the presence of both duplicate and triplicate BLG haplotypes. The occurrence of a triplicate haplotype was supported by population data. The current study supports the helpfulness of up-to-date proteomics for inferring copy number polymorphisms through the characterization of the phenotypic expression.
