Evidence map›Paper›PMID 29378665›Full record

ArticleBiology of sex differences2018

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

Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan, Miguel Almalvez, Eva E Segura, Ascia Eskin, Matthew S Bramble, Valerie A Arboleda, Ruth Baxter, Stanley F Nelson and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biology of sex differences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.9field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 29 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Metalloproteases in gonad formation and ovulation.General and comparative endocrinology · 2021
    Review
  6. Article
  7. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 2 institutions in 2 countries.

Hayk BarseghyanCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, DC, 20010, USA.
Aleisha SymonDepartment of Brain and Gender, Hudson Institute of Medical Research, Clayton, VIC, 3168, Australia.
Mariam ZadikyanDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA.
Miguel AlmalvezCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, DC, 20010, USA.
Eva E SeguraDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA.
Ascia EskinDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA.
Matthew S BrambleCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, DC, 20010, USA.
Valerie A ArboledaDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA.
Ruth BaxterDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA.
Stanley F NelsonDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA.
Emmanuèle C DélotCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, DC, 20010, USA.
Vincent HarleyDepartment of Brain and Gender, Hudson Institute of Medical Research, Clayton, VIC, 3168, Australia.
Eric VilainCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, DC, 20010, USA. evilain@childrensnational.org.
University of California, Los Angeles · USHudson Institute of Medical Research · AU

Funding

Research_ProjectU54HD090257 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI VITTORIO GALLO, VITTORIO GALLO VITTORIO GALLO · 2016 to 2020
$5.9M
Neuroendocrinology, Sex Differences, and ReproductionT32HD007228 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARNOLD, ARTHUR P · 1985 to 2015
$3.9M
NICHD NIH HHS T32 HD007228NICHD NIH HHS U54 HD090257
6 · The paper itself

Abstract

backgroundDisorders 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.

methodsTo 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

resultsWe 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

conclusionThe use of a DSD-specific animal model improves variant interpretation by correlating human sequence variants with transcriptome variation.

Indexed as

Models, AnimalAnimalsDisorder of Sex Development, 46,XYFemaleMaleMice, Inbred C57BLSOX9 Transcription FactorSox9 protein, mouseSOX9 Transcription Factor46,XY DSDC57BL/6J mouseDisorders of sex developmentExomeGonadal dysgenesisRNA-SeqUndervirilization

Identifiers

PMID29378665
PMCPMC5789682
OpenAlexW2794755130

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.