在一个常见的单元型中发生的新突变与Holsteins的小牛肌肉软弱有关
A Al-Khudhair1, P M VanRaden1, D J Null1
1USDA, Agricultural Research Service, Animal Genomics and Improvement Laboratory, Beltsville, MD 20705.
Journal of dairy science
|January 21, 2024
概括
在荷尔斯坦牛群中发现了一种与小牛死亡率相关的基因突变. 这一发现改善了肌肉软弱 (HMW) 的基因测试,并有助于育种策略.
科学领域:
- 动物遗传学动物遗传学
- 兽医医学 兽医医学 兽医医学
- 基因组学就是基因组学.
背景情况:
- 之前确定的一种衰退型单元型与高小牛死亡率和荷尔斯坦牛的不完全透率有关.
- 这种类型与染色体16相关,可以追溯到一个关键的祖先,南风 (HOUSA1964484),出生于1984年.
研究的目的:
- 为了确定负责肌肉衰弱 (HMW) 的特定遗传突变哈普类型.
- 为了提高HMW和霍尔斯坦胆固醇缺乏症 (HCD) 的基因检测准确度.
- 评估HMW对小牛的生存能力的影响,并为繁殖和选择策略提供信息.
主要方法:
- 对560万个霍尔斯坦的基因型分析,以追踪单元型频率和祖先.
- 对受影响的小牛和母婴进行全基因组测序,以确定候选突变.
- 来自DNA存储库的序列数据分析,以与哈普洛型状态一致.
- 匹配哈普洛型和基因型数据与母牛生存记录.
主要成果:
- 在CACNA1S基因中发现了一种有害的误解突变,该突变在受影响的小牛中被确定为同卵性,在携带者中被确定为异卵性,与HMW单体型有97%的一致性.
- 与非携带者相比,对HMW单元型具有同位素的小牛的死亡率明显更高 (18个月时为52%),而非携带者 (2.4%).
- 开发了用于追踪常见单元型内突变的改进方法,增强了对HCD和HMW的基因测试.
结论:
- 鉴定到的CACNA1S突变是HMW单型和相关的小牛死亡的可能原因.
- 直接的基因测试对于常见单基因类型中的新突变至关重要,特别是那些具有不完整透性的单基因类型.
- 准确的遗传数据和改进的追踪方法对于牛养殖计划中对有害等位基因进行有效选择至关重要.
相关概念视频
01:39Mutations
82.4K
Overview
82.4K
02:41Lethal Alleles
15.4K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.4K
01:31Translation
14.9K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
Translation Produces the Building Blocks of Life
Proteins are...
14.9K
01:49Multiple Allele Traits
34.2K
The Concept of Multiple Allelism
34.2K
01:43Incomplete Dominance
22.6K
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.
22.6K
00:49Complementation Tests
4.9K
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...
4.9K