在怀马拉纳犬中EFNB3框架移动变体,其状况类似于先天性镜像运动障碍
Cleo Schwarz1, Florian Bartenschlager2, Olivia Kershaw2
1Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
概括
由于EFNB3.3的遗传变异,在Weimaraner犬中发现了先天性镜像运动障碍 (CMM). 这项研究提出了首个自然存在的CMM动物模型,为人类病例提供了洞察力.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学是一种遗传学.
- 动物模型 动物模型
背景情况:
- 先天性镜像运动障碍 (CMMs) 是人类罕见的,异质的疾病.
- 动物中CMM的自发发生以前没有被记录.
研究的目的:
- 报告威马拉纳犬中第一个自发性CMM病例.
- 为了确定这种犬类CMM表型的遗传基础.
主要方法:
- 进行了临床和病理学检查.
- 链接和自致性映射,然后进行全基因组测序,用于识别受影响的狗和对照的疾病相关变异.
主要成果:
- 三只威马拉犬小狗呈现出一种独特的步态,称为先天性镜像运动障碍1 (CMM1).
- 确定EFNB3基因 (c.643_644dup) 中的2-bp重复是原因,预计会导致过早停止codon.
- 在这种犬种群中,CMM1表现出自体逆向遗传.
结论:
- 在狗中,CMM可以由自发的基因突变引起,反映人类的状况.
- 狗CMM1模型与Efnb3淘汰赛小鼠非常相似,这表明EFNB3在神经发育中的作用.
- EFNB3 是人类未知病因的CMM的潜在候选基因,这项研究建立了一个有价值的大型动物模型.
相关概念视频
01:31Translation
14.4K
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...
14.4K
01:43Incomplete Dominance
20.6K
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.
20.6K