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2015 ; 14
(5
): 369-79
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Human inversions and their functional consequences
#MMPMID25998059
Puig M
; Casillas S
; Villatoro S
; Cáceres M
Brief Funct Genomics
2015[Sep]; 14
(5
): 369-79
PMID25998059
show ga
Polymorphic inversions are a type of structural variants that are difficult to
analyze owing to their balanced nature and the location of breakpoints within
complex repeated regions. So far, only a handful of inversions have been studied
in detail in humans and current knowledge about their possible functional effects
is still limited. However, inversions have been related to phenotypic changes and
adaptation in multiple species. In this review, we summarize the evidences of the
functional impact of inversions in the human genome. First, given that inversions
have been shown to inhibit recombination in heterokaryotes, chromosomes
displaying different orientation are expected to evolve independently and this
may lead to distinct gene-expression patterns. Second, inversions have a role as
disease-causing mutations both by directly affecting gene structure or regulation
in different ways, and by predisposing to other secondary arrangements in the
offspring of inversion carriers. Finally, several inversions show signals of
being selected during human evolution. These findings illustrate the potential of
inversions to have phenotypic consequences also in humans and emphasize the
importance of their inclusion in genome-wide association studies.
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