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Epistasis Analysis

Epistasis Analysis

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...

Epistasis

Epistasis

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...

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

Genetic Lingo

Genetic Lingo

Background and Environment Affect Phenotype

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...

The Ratio of X Chromosome to Autosomes

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Published on: August 15, 2019

APOL1: a case in point for replacing race with genetics.

Girish N Nadkarni¹, Christina M Wyatt¹, Barbara Murphy¹

¹Division of Nephrology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Kidney International

|March 19, 2017

Summary

Apolipoprotein L1 (APOL1) gene variations impact kidney transplant success differently across ethnicities. APOL1 testing before transplantation could predict graft outcomes, but further investigation is required.

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Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

Area of Science:

Nephrology
Genetics
Transplantation immunology

Background:

Racial disparities exist in kidney transplantation outcomes.
Apolipoprotein L1 (APOL1) gene polymorphisms are implicated in these disparities.
APOL1 variants are more prevalent in individuals of African ancestry.

Purpose of the Study:

To investigate the association between APOL1 polymorphisms and kidney transplant outcomes.
To explore the potential of APOL1 genotyping for pre-transplant risk stratification.
To address the need for further research in this area.

Main Methods:

Review of existing literature on APOL1 and kidney transplantation.
Analysis of ethnicity-specific APOL1 allele frequencies.
Correlation of APOL1 status with graft survival and rejection rates.

Main Results:

Significant ethnicity-specific differences in APOL1 polymorphism prevalence were observed.
APOL1 genotype is associated with varying kidney transplant outcomes across different racial groups.
Preliminary evidence suggests APOL1 genotyping may inform risk assessment.

Conclusions:

APOL1 polymorphisms play a crucial role in ethnically diverse kidney transplant outcomes.
APOL1 genotyping presents a potential tool for pre-transplant risk assessment.
Further research is essential to validate and implement APOL1 testing in clinical practice.