Function & Evolution of a Polymorphic Inversion on Human Chromosome 19

Though chromosomal inversions have been studied for several decades, it has been unclear as to how they are maintained in populations and why they may be selected for. To address these questions, a recent publication in PLoS Genetics explores one particular inversion in humans, a 415 kb inversion on chromosome 19. Via comparison of the genotypes of 541 individuals, the researchers found that this inversion is polymorphic in humans, and is mainly found in East Asian populations at a frequency of 4.7%. They estimate that this inversion originated about 50 to 40 ka and its effects are possibly deleterious.