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Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model

Overview of attention for article published in Biology of Sex Differences, January 2018
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  • Good Attention Score compared to outputs of the same age (68th percentile)

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3 tweeters
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1 Wikipedia page

Citations

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7 Dimensions

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31 Mendeley
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Title
Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model
Published in
Biology of Sex Differences, January 2018
DOI 10.1186/s13293-018-0167-9
Pubmed ID
Authors

Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan, Miguel Almalvez, Eva E. Segura, Ascia Eskin, Matthew S. Bramble, Valerie A. Arboleda, Ruth Baxter, Stanley F. Nelson, Emmanuèle C. Délot, Vincent Harley, Eric Vilain

Abstract

Disorders of sex development (DSD) have an estimated frequency of 0.5% of live births encompassing a variety of urogenital anomalies ranging from mild hypospadias to a discrepancy between sex chromosomes and external genitalia. In order to identify the underlying genetic etiology, we had performed exome sequencing in a subset of DSD cases with 46,XY karyotype and were able to identify the causative genetic variant in 35% of cases. While the genetic etiology was not ascertained in more than half of the cases, a large number of variants of unknown clinical significance (VUS) were identified in those exomes. To investigate the relevance of these VUS in regards to the patient's phenotype, we utilized a mouse model in which the presence of a Y chromosome from the poschiavinus strain (Y POS ) on a C57BL/6J (B6) background results in XY undervirilization and sex reversal, a phenotype characteristic to a large subset of human 46,XY DSD cases. We assessed gene expression differences between B6-Y B6 and undervirilized B6-Y POS gonads at E11.5 and identified 515 differentially expressed genes (308 underexpressed and 207 overexpressed in B6-Y POS males). We identified 15 novel candidate genes potentially involved in 46,XY DSD pathogenesis by filtering the list of human VUS-carrying genes provided by exome sequencing with the list of differentially expressed genes from B6-Y POS mouse model. Additionally, we identified that 7 of the 15 candidate genes were significantly underexpressed in the XY gonads of mice with suppressed Sox9 expression in Sertoli cells suggesting that some of the candidate genes may be downstream of a well-known sex determining gene, Sox9. The use of a DSD-specific animal model improves variant interpretation by correlating human sequence variants with transcriptome variation.

Twitter Demographics

The data shown below were collected from the profiles of 3 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 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 31 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 26%
Student > Ph. D. Student 3 10%
Other 2 6%
Professor 2 6%
Student > Bachelor 2 6%
Other 6 19%
Unknown 8 26%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 11 35%
Agricultural and Biological Sciences 6 19%
Medicine and Dentistry 3 10%
Veterinary Science and Veterinary Medicine 1 3%
Neuroscience 1 3%
Other 1 3%
Unknown 8 26%

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 28 May 2018.
All research outputs
#4,589,261
of 16,534,657 outputs
Outputs from Biology of Sex Differences
#147
of 329 outputs
Outputs of similar age
#116,585
of 372,112 outputs
Outputs of similar age from Biology of Sex Differences
#1
of 1 outputs
Altmetric has tracked 16,534,657 research outputs across all sources so far. This one has received more attention than most of these and is in the 71st percentile.
So far Altmetric has tracked 329 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 20.6. This one has gotten more attention than average, scoring higher than 55% 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 372,112 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 68% of its contemporaries.
We're also able to compare this research output to 1 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