Evidence map›Paper›PMID 24793290›Full record

ArticleGenetics2014

Regulation of sex determination in mice by a non-coding genomic region.

Valerie A Arboleda, Alice Fleming, Hayk Barseghyan, Emmanuèle Délot, Janet S Sinsheimer, Eric Vilain

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

Article in Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.5field-weighted citation impact, top 29% 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

9 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Review
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

6 authors at 1 institution in 1 country.

Valerie A ArboledaDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088.
Alice FlemingDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088.
Hayk BarseghyanDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088.
Emmanuèle DélotDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088 Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088.
Janet S SinsheimerDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088 Department of Biomathematics, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088.
Eric VilainDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088 Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088 Department of Urology, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088 evilain@ucla.edu.
University of California, Los Angeles · US

Funding

Disorders of Sex Development: Platform for Basic and Translational ResearchR01HD068138 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SANDBERG, DAVID ERIC, VILAIN, ERIC J. · 2011 to 2015
$4.0M
Gene Dosage in Mammalian Sexual DevelopmentR01HD044513 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI VILAIN, ERIC J. · 2003 to 2013
$3.4M
Identifying Novel Sex Determination Genes that protect from B6-YPOS Sex ReversalF31HD068136 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARBOLEDA, VALERIE A · 2011 to 2011
$33k
NICHD NIH HHS F31 HD068136NICHD NIH HHS F31HD068136NICHD NIH HHS HD044513NICHD NIH HHS R01 HD044513
6 · The paper itself

Abstract

To identify novel genomic regions that regulate sex determination, we utilized the powerful C57BL/6J-Y(POS) (B6-Y(POS)) model of XY sex reversal where mice with autosomes from the B6 strain and a Y chromosome from a wild-derived strain, Mus domesticus poschiavinus (Y(POS)), show complete sex reversal. In B6-Y(POS), the presence of a 55-Mb congenic region on chromosome 11 protects from sex reversal in a dose-dependent manner. Using mouse genetic backcross designs and high-density SNP arrays, we narrowed the congenic region to a 1.62-Mb genomic region on chromosome 11 that confers 80% protection from B6-Y(POS) sex reversal when one copy is present and complete protection when two copies are present. It was previously believed that the protective congenic region originated from the 129S1/SviMJ (129) strain. However, genomic analysis revealed that this region is not derived from 129 and most likely is derived from the semi-inbred strain POSA. We show that the small 1.62-Mb congenic region that protects against B6-Y(POS) sex reversal is located within the Sox9 promoter and promotes the expression of Sox9, thereby driving testis development within the B6-Y(POS) background. Through 30 years of backcrossing, this congenic region was maintained, as it promoted male sex determination and fertility despite the female-promoting B6-Y(POS) genetic background. Our findings demonstrate that long-range enhancer regions are critical to developmental processes and can be used to identify the complex interplay between genome variants, epigenetics, and developmental gene regulation.

Indexed as

AnimalsBreedingChromosomes, MammalianDNA, IntergenicFemaleFounder EffectGenomeHeterozygoteHomozygoteMaleMice, 129 StrainMice, Inbred C57BLPolymorphism, Single NucleotideRegulatory Sequences, Nucleic AcidSex Determination ProcessesSOX9 Transcription FactorDNA, IntergenicSOX9 Transcription Factorcongenicdisorders of sex developmentgonadsex determinationsex reversaltestis

Identifiers

PMID24793290
PMCPMC4096368
OpenAlexW2005648147

What OpenQuestion holds

Textmetadata
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.