Evidence map›Paper›PMID 25010117›Full record

ArticlePloS one2014

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

Elena Rossi, Orietta Radi, Lisa De Lorenzi, Annalisa Vetro, Debora Groppetti, Enrico Bigliardi, Gaia Cecilia Luvoni, Ada Rota, Giovanna Camerino, Orsetta Zuffardi and 1 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
4.4field-weighted citation impact, top 5% 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

15 citing papers in PubMed, 45 citations in OpenAlex.

  1. Canine XX Disorders/Differences of Sex Development (SRY-Negative): A Potential Role for theSexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026
    Review
  2. A Case of Disorder of Sex Development in Red Deer (<italic>Cervus elaphus</italic>).Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026
    Article
  3. XX/XY Chimerism in Internal Genitalia of a Virilized Heifer.Animals : an open access journal from MDPI · 2022
    Article
  4. Article
  5. Clinical Cytogenetics of the Dog: A Review.Animals : an open access journal from MDPI · 2021
    Review
  6. Article
  7. Analysis of XXAnimals : an open access journal from MDPI · 2020
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. 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

11 authors at 5 institutions in 1 country.

Elena RossiDepartment of Molecular Medicine, Pavia University, Pavia, Italy.
Orietta RadiDepartment of Molecular Medicine, Pavia University, Pavia, Italy.
Lisa De LorenziDepartment of Agricultural and Environmental Sciences, Milan University, Milan, Italy.
Annalisa VetroBiotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Debora GroppettiDepartment of Veterinary Science and Public Health, Milan University, Milan, Italy.
Enrico BigliardiDepartment of Veterinary Science, Parma University, Parma, Italy.
Gaia Cecilia LuvoniDepartment of Health, Animal Science and Food Safety, Milan University, Milan, Italy.
Ada RotaDepartment of Veterinary Science, Torino University, Torino, Italy.
Giovanna CamerinoDepartment of Molecular Medicine, Pavia University, Pavia, Italy.
Orsetta ZuffardiDepartment of Molecular Medicine, Pavia University, Pavia, Italy.
Pietro ParmaDepartment of Agricultural and Environmental Sciences, Milan University, Milan, Italy.
University of Milan · ITUniversity of Pavia · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITUniversity of Parma · ITUniversity of Turin · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sexual development in mammals is based on a complicated and delicate network of genes and hormones that have to collaborate in a precise manner. The dark side of this pathway is represented by pathological conditions, wherein sexual development does not occur properly either in the XX and the XY background. Among them a conundrum is represented by the XX individuals with at least a partial testis differentiation even in absence of SRY. This particular condition is present in various mammals including the dog. Seven dogs characterized by XX karyotype, absence of SRY gene, and testicular tissue development were analysed by Array-CGH. In two cases the array-CGH analysis detected an interstitial heterozygous duplication of chromosome 9. The duplication contained the SOX9 coding region. In this work we provide for the first time a causative mutation for the XXSR condition in the dog. Moreover this report supports the idea that the dog represents a good animal model for the study of XXSR condition caused by abnormalities in the SOX9 locus.

Indexed as

Gene Duplication46, XX Testicular Disorders of Sex DevelopmentAnimalsDogsFemaleGenes, sryMaleSOX9 Transcription FactorTestisSOX9 Transcription Factor

Identifiers

PMID25010117
PMCPMC4091935
OpenAlexW2099408220

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.