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The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

Overview of attention for article published in BMC Genomics, January 2013
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • One of the highest-scoring outputs from this source (#2 of 9,369)
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (99th percentile)

Mentioned by

news
11 news outlets
blogs
6 blogs
twitter
78 tweeters
facebook
15 Facebook pages
wikipedia
3 Wikipedia pages
googleplus
1 Google+ user
reddit
1 Redditor
video
1 video uploader

Citations

dimensions_citation
29 Dimensions

Readers on

mendeley
111 Mendeley
citeulike
2 CiteULike
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Title
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
Published in
BMC Genomics, January 2013
DOI 10.1186/1471-2164-14-363
Pubmed ID
Authors

Javier Prado-Martinez, Irene Hernando-Herraez, Belen Lorente-Galdos, Marc Dabad, Oscar Ramirez, Carlos Baeza-Delgado, Carlos Morcillo-Suarez, Can Alkan, Fereydoun Hormozdiari, Emanuele Raineri, Jordi Estellé, Marcos Fernandez-Callejo, Mònica Valles, Lars Ritscher, Torsten Schöneberg, Elisa de la Calle-Mustienes, Sònia Casillas, Raquel Rubio-Acero, Marta Melé, Johannes Engelken, Mario Caceres, Jose Gomez-Skarmeta, Marta Gut, Jaume Bertranpetit, Ivo G Gut, Teresa Abello, Evan E Eichler, Ismael Mingarro, Carles Lalueza-Fox, Arcadi Navarro, Tomas Marques-Bonet

Abstract

The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i.e. white hair, light eyes, pink skin, photophobia and reduced visual acuity. Despite previous efforts to explain the genetic cause, this is still unknown. Here, we study the genetic cause of his albinism and making use of whole genome sequencing data we find a higher inbreeding coefficient compared to other gorillas. We successfully identified the causal genetic variant for Snowflake's albinism, a non-synonymous single nucleotide variant located in a transmembrane region of SLC45A2. This transporter is known to be involved in oculocutaneous albinism type 4 (OCA4) in humans. We provide experimental evidence that shows that this amino acid replacement alters the membrane spanning capability of this transmembrane region. Finally, we provide a comprehensive study of genome-wide patterns of autozygogosity revealing that Snowflake's parents were related, being this the first report of inbreeding in a wild born Western lowland gorilla. In this study we demonstrate how the use of whole genome sequencing can be extended to link genotype and phenotype in non-model organisms and it can be a powerful tool in conservation genetics (e.g., inbreeding and genetic diversity) with the expected decrease in sequencing cost.

Twitter Demographics

The data shown below were collected from the profiles of 78 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 111 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 3 3%
United States 2 2%
United Kingdom 1 <1%
Brazil 1 <1%
Germany 1 <1%
Unknown 103 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 21 19%
Researcher 19 17%
Student > Master 14 13%
Student > Bachelor 11 10%
Student > Postgraduate 8 7%
Other 19 17%
Unknown 19 17%
Readers by discipline Count As %
Agricultural and Biological Sciences 51 46%
Biochemistry, Genetics and Molecular Biology 20 18%
Computer Science 5 5%
Medicine and Dentistry 2 2%
Environmental Science 2 2%
Other 9 8%
Unknown 22 20%

Attention Score in Context

This research output has an Altmetric Attention Score of 198. 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 15 December 2020.
All research outputs
#108,207
of 17,609,679 outputs
Outputs from BMC Genomics
#2
of 9,369 outputs
Outputs of similar age
#809
of 165,195 outputs
Outputs of similar age from BMC Genomics
#1
of 6 outputs
Altmetric has tracked 17,609,679 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 9,369 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done particularly well, scoring higher than 99% 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 165,195 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 99% of its contemporaries.
We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them