Name: gene interaction maps in epistasis
Uploaded: 2023-04-30T10:14:33.000Z
Duration: 1 min 9 s
Channel: JoVE

두 유전자 사이의 반대 관계는 한 유전자가 다른 유전자의 발현을 가리거나 변경하는 상위(epistasis)입니다. 영향을 미치는 유전자는 가려지는 유전자에 대해 epistatic이라고 합니다.
예를 들어, 티로시나아제 관련 단백질 1 또는 TYRP1을 암호화하는 유전자는 개의 털 색깔(검은색 또는 갈색)을 결정합니다.
또 다른 유전자인 티르(Tyr)는 동물의 색소 침착을 담당하는 티로시나아제(tyrosinase) 효소를 암호화합니다. 이 유전자의 돌연변이는 색소의 부재를 유발할 수 있으며, 그 결과 착색이 없는 백색증 개가 될 수 있습니다.
이 두 유전자가 발현되는 순서는 상위(epistasis) 검사에 의해 결정될 수 있습니다.
만약 Tyr 유전자의 돌연변이가 야생형 TYRP1 유전자를 여전히 가지고 있는 알비노 개를 만들어낸다면, Tyr 유전자가 TYRP1 유전자의 영향을 가린다는 결론을 내릴 수 있습니다. 이것은 Tyr이 TYRP1에 epistatic 임을 의미합니다.

<ol>
	<li>미셸스, C.A. (2002). 에피스타시스 분석. 생물학 연구를 위한 유전 기술에서, C.A. Michels (ed.). https://doi.org/10.1002/0470846623.ch6</li>
	<li>번스타인, 해리스, 헨리 C. 바이어리, 프레드릭 A. 호프, 리처드 E. 미코드. "유전자 손상, 돌연변이 및 성의 진화."Science 229, no. 4719 (1985): 1277-1281.</li>
</ol>

전이 분석

Epistasis Analysis

멘델은 유전자 분리를 연구하기 위해 완두콩에서 관련 없는 7가지 특성을 선택했지만 대부분의 특성에는 다양한 표현형을 생성하는 여러 유전자 상호 작용이 포함됩니다. 다양한 위치에 있는 다양한 유전자나 대립유전자의 상호작용이 표현형에 영향을 미치는 경우 이를 상위성이라고 합니다. 상위성은 종종 하나의 유전자가 다른 유전자의 발현을 마스킹하거나 방해하는 것과 관련됩니다(길항적 상위성). 상위성은 서로 다른 유전자가 동일한 생화학적 경로의 일부일 때 종종 발생합니다. 유전자의 발현은 동일한 생화학적 경로의 유전자 산물에 따라 달라질 수 있습니다.

상위성 분석

상위성 상호작용에 대한 연구를 통해 연구자들은 유전자 간의 기능적 관계, 경로에서 유전자의 순서, 서로 다른 대립유전자가 표현형에 정량적으로 영향을 미치는 방식을 결정할 수 있습니다. 서로 다른 유전자에 의해 암호화된 여러 단백질에 의해 촉매되는 생화학적 반응을 생각해 보십시오. 이러한 생화학적 반응에 관여하는 유전자는 동일한 생화학적 경로에 관여하는 다른 유전자를 가리거나 억제할 수 있습니다. 이러한 현상을 상위성이라고 합니다. 이러한 유전자는 하나의 상위성 그룹에 속한다고 합니다. 서로 다른 유전자 간의 상위 관계를 분석함으로써 과학자들은 경로에 관련된 사건과 유전자의 순서를 보여주는 기능 순서 지도를 구축할 수 있습니다. 이 과정을 상위성 분석이라고 합니다. 상위성 분석을 위해 선택된 대립유전자는 뚜렷한 표현형을 가지고 있어야 합니다.

따라서 상위성 개념이 도입된 이후 대부분의 생물학적 시스템에는 여러 가지 복잡한 방식으로 서로 상호 작용하는 많은 유전 요소가 포함되어 있다는 것이 점점 더 분명해졌습니다.

Mendel은 유전자 분리를 연구하기 위해 완두콩에서 7 가지 관련없는 형질을 선택했지만 대부분의 형질은 스펙트럼을 생성하는 여러 유전자 상호 작용을 포함합니다.

Education

교육

JoVE Core

Molecular Biology

분자생물학

Unit 2

제2단원

Analyzing Gene Expression and Function

유전자 발현 및 기능 분석

KEY TERMS AND CONCEPTS

주요 용어 및 개념

gene interaction maps in epistasis

Gene interaction maps in epistasis show how different genes work together to shape a phenotype. In epistasis, the interaction of genes or alleles at different locations affects the final trait. This often happens when one gene masks or interferes with the expression of another gene.

Epistasis is common when genes are part of the same biochemical pathway. In that case, the expression of one gene can depend on a gene product made earlier in the pathway. Genes that mask or inhibit other genes in the same pathway are considered part of one epistasis group.

Epistatic analysis uses these interactions to reveal how genes are related. Scientists can use it to identify the functional relationship between genes, determine the order of genes in a pathway, and see how different alleles affect phenotypes in a quantitative way. When multiple proteins encoded by different genes take part in a biochemical reaction, epistatic analysis can help build an order-of-function map that shows the sequence of events and the genes involved.

To compare genes in this way, the alleles chosen for analysis must have distinct phenotypes. Since epistasis was first described, it has become clear that many biological systems include genetic elements that interact in complex ways. These interactions help explain why many traits do not follow simple single-gene patterns.

Gene Interaction Maps in Epistasis

in vitro mutagenesis

In Vitro Mutagenesis for Gene Analysis

In vitro mutagenesis is a lab method used to change DNA and study gene function. It helps scientists test how specific DNA changes affect a gene’s activity and the traits it controls. A common approach is to make a known change in a DNA sequence and then examine the result. This can be done by deleting, inserting, or altering selected bases in a gene. The method is useful for linking a DNA change to a biological effect. Researchers use in vitro mutagenesis in molecular biology, genetics, and...

genetic screens

Using Genetic Screens to Find Disease Genes

Genetic screens are tools used to find genes and mutations linked to specific traits. They are also used to identify people or groups at risk for genetic diseases. That can support early intervention, targeted therapy, and reproductive choices. Forward genetic screens, also called classical screens, start with random DNA changes in an organism. Researchers may use radiation, mutagens, or added bases to create mutations that lead to visible phenotype changes. The mutant is then inbred so...

test cross

Test Cross in Genetic Inheritance

A test cross is a genetics tool used to determine the genotype of an organism with a dominant trait. It helps reveal whether the dominant individual is homozygous or heterozygous by crossing it with a recessive individual. The outcome of the cross shows the hidden genotype. If any offspring show the recessive trait, the dominant parent must carry one recessive allele. If all offspring show the dominant trait, the dominant parent is likely homozygous dominant. Test crosses are common in basic...

complementation tests

Using Crosses to Group Mutations

A complementation test uses a simple cross to find out whether two mutations are in the same gene or in different genes. It helps show how mutations are arranged on chromosomes. Edward Lewis first performed this test in the 1940s while studying fruit flies. To do the test, organisms heterozygous for different mutations are crossed pairwise in all combinations. If the mutations are in different genes, they can complement each other. In that case, each mutation provides the missing genetic...

single nucleotide polymorphisms-snps

SNPs as Genetic Markers and Variants

Single nucleotide polymorphisms, or SNPs, are small DNA changes at one specific genomic position. They are the most common type of sequence variation in the human genome. A point mutation counts as an SNP when it appears in more than 1% of the population.

bacterial transformation

Bacterial Transformation in the Lab

Bacterial transformation is a lab method used to move new DNA into bacteria. Scientists use it to change how bacteria behave or to help them carry a gene of interest. In high school biology, this process is often shown with plasmids, which are small circular DNA molecules. During transformation, bacteria take up DNA from their surroundings. The new DNA can then be used by the cell, depending on the experiment. This technique is an important part of genetic engineering and is widely used in...

transgenic organisms

Making Transgenic Organisms

Transgenic organisms are living things with DNA added from another organism. A transgene is the inserted gene. Scientists use this method to change an organism’s traits and to study how genes work. To make a transgenic organism, researchers first identify the gene they want to add. They then place that gene into the target organism’s DNA. Once the gene is integrated, the organism can pass it to new cells as it grows. This approach is useful in biology because it helps scientists analyze gene...

reproductive cloning

Cloning an Organism by Reproduction

Reproductive cloning creates a new organism that is genetically the same as the donor. It is different from cloning genes or cells because the goal is to make a whole living individual. This process usually relies on somatic cell nuclear transfer. In this method, the nucleus from a body cell is placed into an egg cell that has had its own nucleus removed. The egg can then develop into an embryo with DNA from the donor cell. Reproductive cloning is used to produce a copy of an organism, such...

crispr

CRISPR Gene Editing Basics

CRISPR is a gene editing tool that helps scientists make targeted changes to DNA. It uses a guide system to find a chosen sequence and a cutting protein to act at that spot. This method is based on a natural defense system found in bacteria. In high school biology, it is often studied as a way to see how genes can be edited with precision. CRISPR is widely used in molecular biology research. It helps scientists explore how genes function and how DNA changes can affect living things.

experimental rnai

RNAi for Gene Silencing and Discovery

RNA interference (RNAi) is a gene-silencing process used to reduce gene expression. It can block transcription or trigger RNA degradation. Scientists first discovered this mechanism in plants in 1998 through Andrew Fire and Craig Mello. RNAi has since been found in many eukaryotes, including protozoa, flies, nematodes, insects, parasites, and mammals. Researchers use it as a practical tool to study gene function. It can show what a gene does without permanently changing the organism’s DNA. <br...

reporter genes

Reporter Genes in Cells and Plasmids

Reporter genes are protein-coding genes used to track gene activity in cells. They are often tagged to a gene of interest so scientists can see whether that gene is present or active. When the tagged genes are expressed together, reporter genes can produce visible signals such as fluorescence or luminescence. These signals help show the presence or absence of a gene of interest in an organism. They can also reveal the pattern of gene expression or the location of a DNA segment or protein...

in-situ hybridization

ISH Probes for DNA and RNA Detection

In situ hybridization (ISH) uses labeled probes to detect and localize specific DNA or RNA molecules in cells, tissues, or tissue sections. The probe is a complementary strand of DNA or RNA that binds to a matching nucleotide sequence in the sample. Since its first use in 1969 for nucleic acid studies, ISH has become an important tool in research and in clinical diagnosis. Several probe types can be used in ISH. These include single-stranded DNA probes, double-stranded DNA probes, antisense...

chromatin immunoprecipitation- chip

ChIP Methods for DNA-Protein Binding

Chromatin immunoprecipitation, or ChIP, is an antibody-based method for finding where proteins bind to DNA. It is used to identify DNA sites bound by transcription factors or histone proteins. ChIP also helps show which histone changes are present, including acetylation, phosphorylation, and methylation. ChIP is commonly divided into two forms: X-ChIP and N-ChIP. X-ChIP first cross-links proteins to DNA inside the cell, then breaks the DNA into pieces by sonication. The protein-DNA complexes...

synthetic biology

Synthetic Biology in Crops and Cells

Synthetic biology combines engineering, molecular biology, cell biology, and systems biology to redesign living systems. Scientists use it to remodel organisms from nature or to build new synthetic organisms. These tools can support protein or enzyme production, bioremediation, the production of useful macromolecules, and the addition of helpful traits to crops. One well-known example is golden rice. This genetically modified rice plant makes grains rich in β-carotene, which is a precursor of...

ribosome profiling

Ribosome Profiling for Translation Snapshot

Ribosome profiling is a deep sequencing method that gives a snapshot of active translation in a cell. It sequences the mRNAs protected by ribosomes. This shows which messages are being read to make proteins at a specific moment. The method has several uses in biology. It can track translation in a living organ or tissue type. It also helps measure new protein synthesis levels. Researchers use it to find translated open reading frames, which are stretches of RNA that can make protein. It can...

transgenic plants

Transgenic Plants for Better Crops

Transgenic plants are crops that have been changed with recombinant DNA technology, also called transgenesis. This method adds a foreign gene or removes a harmful one from an organism. The result is a genetically modified organism. The first transgenic plant was a tobacco plant made in 1983, and it was resistant to tobacco mosaic virus. Since then, transgenic plants have been developed for many uses in agriculture, horticulture, and ornamental plants. Some are designed to resist pests or...

gene therapy

Gene Therapy for Disease Treatment

Gene therapy is a treatment approach that changes gene activity to help address disease. It focuses on the genetic cause of a problem rather than only easing symptoms. In this way, it is used in disease intervention. One common strategy is to replace a faulty gene with a normal copy. Another strategy is to inactivate a gene that is causing harm. Gene therapy can also introduce a new gene to help cells work more normally.

epistasis analysis

Gene interaction maps in epistasis show how different genes work together to shape a phenotype. In epistasis, the interaction of genes or alleles at different locations affects the final trait. This often happens when one gene masks or interferes with the expression of another gene. Epistasis is common when genes are part of the same biochemical pathway. In that case, the expression of one gene can depend on a gene product made earlier in the pathway. Genes that mask or inhibit other genes in...

genome-wide association studies-gwas

Using SNP Patterns to Link Disease Risk

Genome-wide association studies, or GWAS, look for common SNPs, or single nucleotide polymorphisms, that may be linked to disease. Researchers compare how often a SNP appears in people with a disease and in people without it. When a SNP is seen more often in the disease group, it is considered associated with that disease. GWAS uses chi-square analysis to test the chance that an allele is linked to the disease. This approach does not require scientists to first find the target gene behind the...

key terms and concepts

Explore how epistasis reveals gene interactions, pathway order, and phenotype changes through epistatic analysis in high school biology.

Gene Interaction Maps in Epistasis | JoVE K12

molecular biology

JoVE Core 분자생물학은 명확하고 간결한 애니메이션을 통해 분자 단계에서 일어나는 세포 과정을 설명합니다.또한, 과학자가 직접 실험을 진행하는 실사 영상을 통해 분자생물학 개념의 응용 사례를 보여줍니다.

Gene Interaction Maps in Epistasis

Description

Transcript