トランス調節性突然変異が体調と遺伝子発現に与えるプレオトロピー効果
Pétra Vande Zande1, Mark S Hill2, Patricia J Wittkopp1,2
1Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI, USA.
Science (New York, N.Y.)
|June 30, 2022
まとめ
シスとトランスの両方の調節性突然変異は,酵母における遺伝子発現と適合性に異なった影響を及ぼします. トランス調節性突然変異はより広範囲で有害な効果を示し,その進化的役割が減少することを示唆しています.
科学分野:
- 遺伝学とゲノミクス
- 進化生物学
- 分子生物学
背景:
- 遺伝子発現の多様性は 進化に不可欠です
- シスとトランス調節性突然変異は,この変異を形作る上で異なる役割を果たします.
- 進化遺伝学の鍵となるのは その差異的な影響を理解することです
研究 の 目的:
- 遺伝子発現と体調に対するシスおよびトランス調節性突然変異の影響を比較する.
- これらの変異,特にSaccharomyces cerevisiaeのTDH3遺伝子のプレイオトロプ的効果を調査する.
- 観察された影響に基づいて,制御変異の進化的動態を推論する.
主な方法:
- モデル生物としてサッカロミケスを用いる.
- cis と trans 調節性突然変異による遺伝子発現変化の分析
- これらの変異と関連した健康上の影響を評価する.
- 焦点遺伝子を越えたトランス調節的影響を推論するために,シス調節的変異効果を使用します.
主要な成果:
- シスおよびトランス調節性突然変異は,遺伝子発現に差異的な効果を発揮する.
- トランス調節性突然変異は,より広範で有害なプレイオトロピー効果を示し,標的と並行して下流の遺伝子に影響を与えます.
- 観察された効果は,時間とともにトランス調節性突然変異の進化的貢献が減少していることを示唆している.
結論:
- トランス調節性突然変異は,シス調節性突然変異と比較して,遺伝子発現と体調により広範で有害な影響を及ぼします.
- 変異のプレオトロプ的性質は複数の遺伝子発現経路に影響する.
- これらの発見は,トランス調節性突然変異がより長い進化の時間スケールでの発現の逸脱に少なからず寄与するという仮説を支持する.
関連する概念動画
01:42What is Gene Expression?
170.2K
Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
170.2K
01:23Regulation of Expression at Multiple Steps
993
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...
993
02:24Regulation of Expression Occurs at Multiple Steps
23.1K
Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...
23.1K
01:33Pleiotropy
41.0K
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,...
41.0K
01:39Epistasis
47.6K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
47.6K
01:09Epistasis Analysis
5.2K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.2K