↓ Skip to main content

Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence

Overview of attention for article published in PLoS Genetics, March 2014
Altmetric Badge

About this Attention Score

  • Good Attention Score compared to outputs of the same age (70th percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

twitter
6 X users

Citations

dimensions_citation
28 Dimensions

Readers on

mendeley
75 Mendeley
citeulike
2 CiteULike
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence
Published in
PLoS Genetics, March 2014
DOI 10.1371/journal.pgen.1004208
Pubmed ID
Authors

Cristina Aguado, Magdalena Gayà-Vidal, Sergi Villatoro, Meritxell Oliva, David Izquierdo, Carla Giner-Delgado, Víctor Montalvo, Judit García-González, Alexander Martínez-Fundichely, Laia Capilla, Aurora Ruiz-Herrera, Xavier Estivill, Marta Puig, Mario Cáceres

Abstract

In recent years different types of structural variants (SVs) have been discovered in the human genome and their functional impact has become increasingly clear. Inversions, however, are poorly characterized and more difficult to study, especially those mediated by inverted repeats or segmental duplications. Here, we describe the results of a simple and fast inverse PCR (iPCR) protocol for high-throughput genotyping of a wide variety of inversions using a small amount of DNA. In particular, we analyzed 22 inversions predicted in humans ranging from 5.1 kb to 226 kb and mediated by inverted repeat sequences of 1.6-24 kb. First, we validated 17 of the 22 inversions in a panel of nine HapMap individuals from different populations, and we genotyped them in 68 additional individuals of European origin, with correct genetic transmission in ∼ 12 mother-father-child trios. Global inversion minor allele frequency varied between 1% and 49% and inversion genotypes were consistent with Hardy-Weinberg equilibrium. By analyzing the nucleotide variation and the haplotypes in these regions, we found that only four inversions have linked tag-SNPs and that in many cases there are multiple shared SNPs between standard and inverted chromosomes, suggesting an unexpected high degree of inversion recurrence during human evolution. iPCR was also used to check 16 of these inversions in four chimpanzees and two gorillas, and 10 showed both orientations either within or between species, providing additional support for their multiple origin. Finally, we have identified several inversions that include genes in the inverted or breakpoint regions, and at least one disrupts a potential coding gene. Thus, these results represent a significant advance in our understanding of inversion polymorphism in human populations and challenge the common view of a single origin of inversions, with important implications for inversion analysis in SNP-based studies.

X Demographics

X Demographics

The data shown below were collected from the profiles of 6 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 75 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 1%
Russia 1 1%
Czechia 1 1%
Germany 1 1%
Unknown 71 95%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 19 25%
Researcher 13 17%
Student > Master 11 15%
Student > Doctoral Student 5 7%
Student > Bachelor 4 5%
Other 11 15%
Unknown 12 16%
Readers by discipline Count As %
Agricultural and Biological Sciences 36 48%
Biochemistry, Genetics and Molecular Biology 19 25%
Medicine and Dentistry 3 4%
Mathematics 1 1%
Economics, Econometrics and Finance 1 1%
Other 3 4%
Unknown 12 16%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 29 October 2020.
All research outputs
#7,714,565
of 25,374,647 outputs
Outputs from PLoS Genetics
#4,936
of 8,960 outputs
Outputs of similar age
#69,567
of 237,012 outputs
Outputs of similar age from PLoS Genetics
#108
of 199 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 8,960 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.7. This one is in the 44th percentile – i.e., 44% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 237,012 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 70% of its contemporaries.
We're also able to compare this research output to 199 others from the same source and published within six weeks on either side of this one. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.