一只绵羊的体揭示了结构变异的频谱及其对尾巴表型的影响
Ran Li1, Mian Gong1, Xinmiao Zhang1
1Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi 712100, China.
Genome research
|June 13, 2023
概括
这项研究对绵羊基因组的结构变异 (SVs) 进行了目录,揭示了新的遗传元素及其在尾巴长度等特征中的潜在作用. 这些发现为绵羊遗传学和育种提供了关键资源.
科学领域:
- 基因组学就是基因组学.
- 动物遗传学动物遗传学
- 生物信息学是一种生物信息学.
背景情况:
- 结构变异 (SVs) 对遗传多样性和表型变异有显著的贡献.
- 在家禽,特别是绵羊中,SVs的流行率和功能作用仍然在很大程度上未被探索.
研究的目的:
- 为各种羊品种生成高质量的基因组组合.
- 创建一个关于绵羊结构变异的综合目录.
- 为了识别与表型特征和化相关的SV.
主要方法:
- 高准确度测序 (PacBio) 用于新的基因组组装.
- 结构变异的识别和注释,包括插入/删除和分离的等位基因.
- 全基因组关联研究 (GWAS) 和基因表达分析.
主要成果:
- 发现了130.3 Mb的非参考序列和588个注释的基因.
- 确定了149158个插入/删除,6531个分离的等位基因和14707个多等位基因变异.
- 发现大多数SV与SNP的链接不平衡很低,并且没有被现有的SNP芯片标记得好.
- 确定了865个人口分层的SV,其中122个可能与养有关.
- 在HOXB13的5' UTR中发现了一种新的168-bp插入,与绵羊的长尾特征密切相关.
结论:
- 开发了高质量的绵羊基因组组合和全面的SV目录的宝贵资源.
- 突出了SVs在绵羊遗传多样性和特征变异中的重要作用.
- 为未来关于绵羊特征生物学和遗传改进的研究提供了基础.
相关概念视频
Pleiotropy
40.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.7K
Comparing Copy Number Variations and SNPs
17.8K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.8K
Incomplete Dominance
22.9K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.9K
Epistasis
47.0K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
47.0K
Background and Environment Affect Phenotype
6.6K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
6.6K
Single Nucleotide Polymorphisms-SNPs
15.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.3K


