北美野牛 (Bison bison) 的染色体水平参考基因组和变异数据库有助于识别白化突变
Sam Stroupe1, Carly Martone1, Blake McCann2
1Department of Veterinary Pathobiology, Texas A&M University School of Veterinary Medicine and Biomedical Science, College Station, TX 77843, USA.
G3 (Bethesda, Md.)
|July 22, 2023
概括
北美野牛的新参考基因组有助于保护和人口研究. 研究人员确定了一种与白化色相关的铁酶基因突变,为这种标志性物种的遗传研究提供了一种工具.
科学领域:
- 基因组学就是基因组学.
- 保护生物学 保护生物学
- 动物遗传学动物遗传学
背景情况:
- 开发高质量的参考基因组对于理解物种的保护,生态,进化和种群基因组学至关重要.
- 以前的野牛基因组组合缺乏详细基因组分析所需的连续性和完整性.
研究的目的:
- 为北美野牛创建一个高度连续的染色体水平参考基因组.
- 建立基因组变异数据库,用于人口层面的研究,包括外套颜色的遗传基础.
- 为了识别与野牛真正的白色染色相关的遗传变异.
主要方法:
- 基因组测序和组装使用北美野牛和家畜的F1杂交.
- 编制阿尔比诺和野生型野牛的基因组变异数据库.
- 使用全基因组变异分析识别单核酸多态 (SNP) 突变.
- 开发和应用TaqMan SNP基因定型试验,用于定向基因定型.
主要成果:
- 为北美野牛生成了染色体水平的参考基因组,具有卓越的连续性和完整性.
- 在染色体29上的铁酶基因中,一种非同义的SNP突变 (c.1114C>T) 被确定为真正白化色的潜在原因.
- 在SNP基因型定型试验证实了突变与白色野牛的关联,并确定了异构体载体.
结论:
- 新的野牛基因组组合和变异数据库代表了野牛基因组学研究的重大进步.
- 鉴定到的铁酶基因突变为研究外套颜色遗传学和潜在的保护工作提供了有价值的遗传标记.
- 这一资源将促进未来对北美野牛的生态,进化和种群基因组学的研究.
更多相关视频
相关概念视频
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
Genome-wide Association Studies-GWAS
13.6K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.6K
Incomplete Dominance
22.8K
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.
22.8K
Genetic Variation
327
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
Genes exist in different versions called alleles,...
327
Complementation Tests
5.0K
A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
5.0K


