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

קשר מנוגד בין שני גנים הוא אפיסטזיס, שבו גן אחד מסווה או משנה את הביטוי של גן אחר. הגן המשפיע אמור להיות אפיסטטי לגן המוסווה.
לדוגמה, גן המקודד חלבון הקשור לטירוזינאז 1, או TYRP1, קובע את צבע הפרווה של כלבים - שחור או חום.
גן נוסף, Tyr, מקודד לאנזים טירוסינאז, האחראי על פיגמנטציה בבעלי חיים. מוטציה בגן זה יכולה לגרום להיעדר פיגמנט, וכתוצאה מכך כלב לבקנים חסר כל צבע.
הסדר שבו שני גנים אלה באים לידי ביטוי יכול להיקבע על ידי בדיקת אפיסטזיס.
אם מוטציה בגן Tyr מייצרת כלב לבקן שעדיין מחזיק בגן TYRP1 מסוג פראי, ניתן להסיק כי הגן Tyr מסווה את ההשפעה של הגן TYRP1. משמעות הדבר היא כי צור הוא אפיסטטי TYRP1.

<ol>
	<li>מיכלס, כ. (2002). ניתוח אפיסטזיס. בטכניקות גנטיות למחקר ביולוגי, C.A. Michels (עורך). https://doi.org/10.1002/0470846623.ch6</li>
	<li>ברנשטיין, האריס, הנרי ביירלי, פרדריק א. הופף וריצ'רד א. מיצ'וד. "נזק גנטי, מוטציה והאבולוציה של המין". מדע 229, מס '4719 (1985): 1277-1281.</li>
</ol>

מחקר אפיסטאזיס

Epistasis Analysis

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למרות שמנדל בחר בשבע תכונות לא קשורות באפונה כדי לחקור את הפרדת הגנים, רוב התכונות כוללות אינטראקציות גנים מרובות היוצרות ספקטרום של פנוטיפים. כאשר האינטראקציה של גנים או אללים שונים במקומות שונים משפיעה על פנוטיפ, זה נקרא אפיסטאזיס. אפיסטאזיס כרוך לרוב במיסוך גן אחד או הפרעה לביטוי של אחר (אפיסטזיס אנטגוניסטי). אפיסטאזיס מתרחשת לעתים קרובות כאשר גנים שונים הם חלק מאותו מסלול ביוכימי. הביטוי של גן עשוי להיות תלוי במוצר גנטי באותו מסלול ביוכימי.

מחקר אפיסטטי

המחקר של אינטראקציות אפיסטטיות מאפשר לחוקרים לקבוע את הקשר התפקודי בין גנים, את סדר הגנים במסלול וכיצד אללים שונים משפיעים כמותית על פנוטיפים. חשבו על תגובה ביוכימית המקוטלזת על ידי חלבונים מרובים המקודדים על ידי גנים שונים. הגנים המעורבים בתגובות ביוכימיות כאלה יכולים להסוות או לעכב גנים אחרים המעורבים באותו מסלול ביוכימי, תופעה הנקראת אפיסטאזיס. אומרים שגנים כאלה נמצאים בקבוצת אפיסטאזיס אחת. על ידי ניתוח הקשר האפיסטטי בין גנים שונים, מדענים יכולים לבנות מפת סדר תפקודים המציגה את רצף האירועים והגנים המעורבים במסלול. תהליך זה נקרא ניתוח אפיסטטי. האללים שנבחרו לניתוח האפיסטטי חייבים להיות בעלי פנוטיפים ברורים.

ככזה, מאז שהמושג אפיסטאזיס הוצג, התברר יותר ויותר שרוב המערכות הביולוגיות כוללות אלמנטים גנטיים רבים המקיימים אינטראקציה זה עם זה בדרכים מרובות ומורכבות.
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למרות שמנדל בחר שבע תכונות לא קשורות באפונה כדי לחקור הפרדת גנים, רוב התכונות כוללות אינטראקציות גנים מרובות היוצרות ספקטרום של ...

Education

JoVE Core

Molecular Biology

ביולוגיה מולקולרית

Unit 2

יחידה 2

Analyzing Gene Expression and Function

ניתוח ביטוי ותפקוד של גנים

KEY TERMS AND CONCEPTS

מונחים ומושגים מרכזיים

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...

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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...

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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.

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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 Molecular Biology showcases the molecular processes of the cell through clear and concise animated video lessons. Additionally, in scientist-in-action videos, these concepts' application is demonstrated through real experiments in modern laboratories.

Gene Interaction Maps in Epistasis

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