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Balancing Selection on a Regulatory Region Exhibiting Ancient Variation That Predates Human–Neandertal Divergence

Overview of attention for article published in PLoS Genetics, April 2013
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (91st percentile)
  • High Attention Score compared to outputs of the same age and source (80th percentile)

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1 blog
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6 X users
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1 Facebook page
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1 Google+ user
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1 YouTube creator

Citations

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24 Dimensions

Readers on

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114 Mendeley
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4 CiteULike
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Title
Balancing Selection on a Regulatory Region Exhibiting Ancient Variation That Predates Human–Neandertal Divergence
Published in
PLoS Genetics, April 2013
DOI 10.1371/journal.pgen.1003404
Pubmed ID
Authors

Omer Gokcumen, Qihui Zhu, Lubbertus C. F. Mulder, Rebecca C. Iskow, Christian Austermann, Christopher D. Scharer, Towfique Raj, Jeremy M. Boss, Shamil Sunyaev, Alkes Price, Barbara Stranger, Viviana Simon, Charles Lee

Abstract

Ancient population structure shaping contemporary genetic variation has been recently appreciated and has important implications regarding our understanding of the structure of modern human genomes. We identified a ∼36-kb DNA segment in the human genome that displays an ancient substructure. The variation at this locus exists primarily as two highly divergent haplogroups. One of these haplogroups (the NE1 haplogroup) aligns with the Neandertal haplotype and contains a 4.6-kb deletion polymorphism in perfect linkage disequilibrium with 12 single nucleotide polymorphisms (SNPs) across diverse populations. The other haplogroup, which does not contain the 4.6-kb deletion, aligns with the chimpanzee haplotype and is likely ancestral. Africans have higher overall pairwise differences with the Neandertal haplotype than Eurasians do for this NE1 locus (p<10⁻¹⁵). Moreover, the nucleotide diversity at this locus is higher in Eurasians than in Africans. These results mimic signatures of recent Neandertal admixture contributing to this locus. However, an in-depth assessment of the variation in this region across multiple populations reveals that African NE1 haplotypes, albeit rare, harbor more sequence variation than NE1 haplotypes found in Europeans, indicating an ancient African origin of this haplogroup and refuting recent Neandertal admixture. Population genetic analyses of the SNPs within each of these haplogroups, along with genome-wide comparisons revealed significant FST (p = 0.00003) and positive Tajima's D (p = 0.00285) statistics, pointing to non-neutral evolution of this locus. The NE1 locus harbors no protein-coding genes, but contains transcribed sequences as well as sequences with putative regulatory function based on bioinformatic predictions and in vitro experiments. We postulate that the variation observed at this locus predates Human-Neandertal divergence and is evolving under balancing selection, especially among European populations.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 114 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 5 4%
Sweden 1 <1%
Czechia 1 <1%
Germany 1 <1%
Unknown 106 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 32 28%
Researcher 22 19%
Professor 14 12%
Student > Master 11 10%
Professor > Associate Professor 9 8%
Other 22 19%
Unknown 4 4%
Readers by discipline Count As %
Agricultural and Biological Sciences 67 59%
Biochemistry, Genetics and Molecular Biology 20 18%
Medicine and Dentistry 4 4%
Arts and Humanities 4 4%
Social Sciences 3 3%
Other 13 11%
Unknown 3 3%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 16. 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 05 September 2019.
All research outputs
#2,267,041
of 25,371,288 outputs
Outputs from PLoS Genetics
#1,870
of 8,960 outputs
Outputs of similar age
#18,617
of 212,360 outputs
Outputs of similar age from PLoS Genetics
#37
of 191 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
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 has done well, scoring higher than 79% of its peers.
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 212,360 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 91% of its contemporaries.
We're also able to compare this research output to 191 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 80% of its contemporaries.