在基因组和表达特征方面,ohnologs和SSDparalogs不同,与剂量限制有关
1Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
Genome biology and evolution
|September 30, 2023
概括
基因复制性因机制而异,基因剂量和表达成本是关键因素. 小规模重复显示,与全基因组重复相比,对保留重复的限制较小.
科学领域:
- 进化生物学是进化的生物学.
- 基因组学就是基因组学.
- 分子进化的分子进化.
背景情况:
- 基因复制是基因组进化的主要驱动因素,但其决定因素尚未完全理解.
- 以前的研究由于方法上的差异而面临限制,阻碍了对基因重复性的比较分析.
- 了解基因重复性对于破译基因重复在进化过程中的作用至关重要.
研究的目的:
- 通过使用一致的定义,系统地研究人类血统中基因重复性的决定因素.
- 区分影响小规模重复的因素与全基因组重复事件.
- 解决混因素对基因复制性的影响,例如重复寿命.
主要方法:
- 在人类血统中利用了基因复制性的一致定义.
- 采用分类方法来识别与重复机制相关的关键基因特征.
- 对重复寿命的混效应进行控制,以隔离其他特征的影响.
主要成果:
- 确定了一组基因特征,这些特征显著区分了通过小规模重复复制复制的基因与通过全基因组重复复制复制的基因.
- 揭示了基因剂量和表达成本作为基因重复性的决定因素的关键作用.
- 观察到,在各种功能环境中,由于小规模的重复事件而导致的重复的保留缺乏约束.
结论:
- 基因剂量和基因表达成本是影响基因是否更有可能通过小规模或全基因组机制重复复制的关键因素.
- 与全基因组重复相比,小规模的基因重复事件在保留产生的重复物方面似乎不那么受到限制.
- 这项研究提供了对基因复制性决定因素的更明确的理解,进步了对基因组进化的洞察力.
相关概念视频
01:33Pleiotropy
40.6K
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,...
40.6K
02:26Comparing Copy Number Variations and SNPs
17.7K
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%...
17.7K
01:05Single Nucleotide Polymorphisms-SNPs
15.2K
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,...
15.2K
01:57Gene Families
8.9K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
8.9K
02:50Dosage Compensation
6.2K
In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will...
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will...
6.2K
01:23Regulation of Expression at Multiple Steps
942
The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
942