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Genetic Variants Contribute to Gene Expression Variability in Humans

Genetic Variants Contribute to Gene Expression Variability in Humans 2025

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The document presents a study on expression quantitative trait loci (eQTL) and expression variability QTL (evQTL) in humans, focusing on the relationship between genetic variants and gene expression variability. The authors systematically explore genome-wide associations using a double generalized linear model to analyze gene expression data from lymphoblastoid cell lines derived from HapMap individuals. They identify significant cis-acting evQTL involving 218 distinct genes and approximately 300 trans-acting evQTL. The findings suggest that genetic variants contribute to the variability of gene expression, highlighting the importance of understanding these mechanisms for insights into phenotypic diversity and potential implications for disease susceptibility.

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What does genetic variation contribute to?

Genetic variations that alter gene activity or protein function can introduce different traits in an organism. If a trait is advantageous and helps the individual survive and reproduce, the genetic variation is more likely to be passed to the next generation (a process known as natural selection).

What causes variation in gene expression?

Heritable variation in gene expression is common within and between species. This variation arises from mutations that alter the form or function of molecular gene regulatory networks that are then filtered by natural selection.

What is the cause of genetic variability in humans?

Causes of variation Causes of differences between individuals include independent assortment, the exchange of genes (crossing over and recombination) during reproduction (through meiosis) and various mutational events.

How do mutations contribute to genetic variability?

Mutation creates slightly different versions of the same genes, called alleles. These small differences in DNA sequence make every individual unique. They account for the variation we see in human hair color, skin color, height, shape, behavior, and susceptibility to disease.

What are the main causes of genetic variation?

There are several causes of variation, including genetic factors, environmental factors, and random events. What are Genetic Factors? Genetic factors are variations that are inherited from parents.