How crossing over can generate copy number variation.

Author: Evan E. Eichler

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How crossing over can generate copy number variation.

A) In a normal meiosis, chromosomes align precisely at the recombination site and crossovers do not change the number of genes in the recombinant chromosomes. B) The presence of duplicated sequences on a chromosome increases the frequency of chromosome misalignment during meiosis I. Misalignment can result in unequal crossover events that increase the copy number of genes on one recombinant chromosome, while decreasing the copy number of the genes on the other recombinant chromosome.

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Copy Number Variation and Human Disease

Analysis of individual human genomes has revealed an unexpected amount of variability in human populations. Copy number variation (CNV) has recently been identified as a major cause of structural variation in the genome, involving both duplications and deletions of sequences that typically range in length from 1,000 base pairs to 5 megabases, the cytogenetic level of resolution. Evidence is accumulating that CNVs play important roles in human disease.