有 rs41524547-G 的扩展单元型定义了 SCA10 的祖先起源
Karen N McFarland1,2, Anjana Tiwari3, Vera Hashem3
1Department of Neurology, College of Medicine, The McKnight Brain Institute, University of Florida, 1149 South Newell Drive, Gainesville, FL 32610, United States.
Human molecular genetics
|June 4, 2024
概括
脊髓小脑动症10型 (SCA10) 与一种特定的遗传标志物rs41524547-G有关,主要存在于美洲和东亚. 这一发现表明SCA10扩张的单一史前起源.
科学领域:
- 遗传学 是一个遗传学.
- 神经退行性疾病 神经退行性疾病
- 人口遗传学 人口遗传学
背景情况:
- 10型脊髓脑动症 (SCA10) 是一种罕见的,自体主导的神经退行性疾病.
- 它的特点是ATXN10基因中 (ATTCT) n重复的大量扩张.
- 先前在美洲原住民和亚洲人群中的发现表明,共同的祖先起源.
研究的目的:
- 为了研究与SCA10扩展相关的单元型.
- 为了确定SCA10.0的潜在遗传标记物.
- 为了探索SCA10扩展的祖先起源.
主要方法:
- 对SCA10患者的哈普类型分析.
- 在MIR4762基因中发现的单核酸多态 (SNP) rs41524547的基因定型.
- 对人口遗传学数据库 (1000个基因组/国际基因组样本资源) 和一般人口样本进行rs41524547-G和SCA10扩展的选.
主要成果:
- 所有SCA10患者都有一个由小等位基 rs41524547-G.定义的共同的单位基因组型.
- rs41524547 SNP位于MIR4762微RNA基因的DROSHA分离部位内.
- 在全球范围内,rs41524547-G等位基因的频率很低 (<5%),但集中在美洲和东亚.
- 在高达25%的rs41524547-G阳性样本中发现了SCA10重复扩张.
- 减少SCA10扩张的透率可能与年龄,重复大小,纯度或MIR4762-5p破坏等因素有关.
结论:
- rs41524547-G被确定为SCA10.的最强大的风险SNP等位基因.
- 这种SNP对于选SCA10扩展在人口遗传学研究中是有价值的.
- 这些发现提供了强有力的证据,证明SCA10扩张在迁移到美洲之前的单一史前起源.
相关概念视频
Genome-wide Association Studies-GWAS
13.3K
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...
13.3K
Synteny and Evolution
3.2K
John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
3.2K
Exon Recombination
3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
Single Nucleotide Polymorphisms-SNPs
15.0K
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,...
15.0K
Pleiotropy
40.4K
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,...
40.4K
Multi-species Conserved Sequences
3.9K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
3.9K


