Evidence map›Paper›PMID 35850260›Full record

ArticleDevelopmental biology2022

DDB1- and CUL4-associated factor 12-like protein 1 (Dcaf12l1) is not essential for male fertility in mice.

Brendan J Houston, Alexandra M Lopes, Maris Laan, Liina Nagirnaja, Anne E O'Connor, D Jo Merriner, Joseph Nguyen, Margus Punab, Antoni Riera-Escamilla, Csilla Krausz and 3 more

Open access · greenAbstract read
In one paragraph

Article in Developmental biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 20% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
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  3. Review
  4. Article
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 8 institutions in 8 countries.

Brendan J HoustonSchool of BioSciences and Bio21 Institute, The University of Melbourne, Parkville, VIC, Australia. Electronic address: brendan.houston@unimelb.edu.au.
Alexandra M LopesInstituto de Investigação e Inovação em Saúde, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Portugal; Genetics of Male Infertility Initiative (GEMINI), USA.
Maris LaanGenetics of Male Infertility Initiative (GEMINI), USA; Faculty of Medicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Estonia.
Liina NagirnajaGenetics of Male Infertility Initiative (GEMINI), USA; Division of Genetics, Oregon National Primate Research Center, Beaverton, OR, USA.
Anne E O'ConnorSchool of BioSciences and Bio21 Institute, The University of Melbourne, Parkville, VIC, Australia.
D Jo MerrinerSchool of BioSciences and Bio21 Institute, The University of Melbourne, Parkville, VIC, Australia.
Joseph NguyenSchool of BioSciences and Bio21 Institute, The University of Melbourne, Parkville, VIC, Australia.
Margus PunabGenetics of Male Infertility Initiative (GEMINI), USA; Faculty of Medicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Estonia; Andrology Centre, Tartu University Hospital, Tartu, Estonia; Faculty of Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Antoni Riera-EscamillaAndrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, Catalonia, Spain.
Csilla KrauszGenetics of Male Infertility Initiative (GEMINI), USA; International Male Infertility Genomics Consortium (IMIGC); Department of Experimental and Clinical Biomedical Sciences "Mario Serio", Centre of Excellence DeNothe, University of Florence, Florence, Italy.
Kenneth Ivan AstonGenetics of Male Infertility Initiative (GEMINI), USA; International Male Infertility Genomics Consortium (IMIGC); Division of Reproductive Endocrinology and Infertility, School of Medicine, Washington University, St Louis, MO, USA.
Donald F ConradGenetics of Male Infertility Initiative (GEMINI), USA; Division of Genetics, Oregon National Primate Research Center, Beaverton, OR, USA; International Male Infertility Genomics Consortium (IMIGC).
Moira K O'BryanSchool of BioSciences and Bio21 Institute, The University of Melbourne, Parkville, VIC, Australia; Genetics of Male Infertility Initiative (GEMINI), USA; International Male Infertility Genomics Consortium (IMIGC).
The University of Melbourne · AUOregon National Primate Research Center · USEuropean Society for Sexual Medicine · ITTartu University Hospital · EEUniversidade do Porto · PTUniversitat Autònoma de Barcelona · ESUniversity of Tartu · EEWashington University in St. Louis · US

Funding

GENOMICS OF SPERMATOGENIC IMPAIRMENTR01HD078641 · NICHD · WASHINGTON UNIVERSITY · PI Kenneth Ivan Aston, DONALD F. CONRAD · 2014 to 2026
$6.3M
NICHD NIH HHS R01 HD078641
6 · The paper itself

Abstract

Male infertility is a common condition affecting at least 7% of men worldwide and is often genetic in origin. Using whole exome sequencing, we recently discovered three hemizygous, likely damaging variants in DDB1- and CUL4-associated factor 12-like protein 1 (DCAF12L1) in men with azoospermia. DCAF12L1 is located on the X-chromosome and as identified by single cell sequencing studies, its expression is enriched in human testes and specifically in Sertoli cells and spermatogonia. However, very little is known about the role of DCAF12L1 in spermatogenesis, thus we generated a knockout mouse model to further explore the role of DCAF12L1 in male fertility. Knockout mice were generated using CRISPR/Cas9 technology to remove the entire coding region of Dcaf12l1 and were assessed for fertility over a broad range of ages (2-8 months of age). Despite outstanding genetic evidence in men, loss of DCAF12L1 had no discernible impact on male fertility in mice, as highlighted by breeding trials, histological assessment of the testis and epididymis, daily sperm production and evaluation of sperm motility using computer assisted methods. This disparity is likely due to the parallel evolution, and subsequent divergence, of DCAF12 family members in mice and men or the presence of compounding environmental factors in men.

Indexed as

FertilityInfertility, MaleTestisAdaptor Proteins, Signal TransducingAnimalsFactor XIIHumansMaleMiceMice, KnockoutSpermatogenesisSperm MotilityAdaptor Proteins, Signal TransducingDcaf12l1 protein, mouseFactor XIIAzoospermiaDCAF12L1Male infertilityWhole exome sequencing

Identifiers

PMID35850260
PMCPMC12117516
OpenAlexW4285602179

What OpenQuestion holds

Textmetadata
LicenceTDM
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.