Evidence map›Paper›PMID 35554494›Full record

ArticleBiology of reproduction2022

Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man†.

Li Ling, Fangfang Li, Pinglan Yang, Robert D Oates, Sherman Silber, Cornelia Kurischko, Francis C Luca, N Adrian Leu, Jinwen Zhang, Qiuling Yue and 6 more

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Biology of reproduction, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.1field-weighted citation impact, top 21% 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. TAF7L regulates early stages of male germ cell development in the rat.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024
    Article
  2. 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

16 authors at 7 institutions in 3 countries.

Li LingState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
Fangfang LiState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
Pinglan YangState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
Robert D OatesDepartment of Urology, Boston University Medical Center, Boston, MA, USA.
Sherman SilberInfertility Center of St. Louis, St. Luke's Hospital, St. Louis, MO, USA.
Cornelia KurischkoDepartment of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, USA.
Francis C LucaDepartment of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, USA.
N Adrian LeuDepartment of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, USA.
Jinwen ZhangState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
Qiuling YueState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
Helen SkaletskyHoward Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.
Laura G BrownHoward Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.
Steve G RozenCentre for Computational Biology, Duke-NUS Graduate Medical School, Singapore.
David C PageHoward Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.
P Jeremy WangDepartment of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, USA.
Ke ZhengState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
Nanjing Medical University · CNUniversity of Pennsylvania · USWhitehead Institute for Biomedical Research · USBoston University · USDuke-NUS Medical School · SGHoward Hughes Medical Institute · USSt. Luke's Hospital · US

Funding

Research Project 4: Epigenetic Regulation of Retrotransposon Silencing and Male Fertility in the MouseP50HD068157 · NICHD · UNIVERSITY OF PENNSYLVANIA · PI MONICA AILAWADI MAINIGI · 2014 to 2026
$16.3M
Modeling human male infertility in miceR03HD064628 · NICHD · UNIVERSITY OF PENNSYLVANIA · PI WANG, PEIJING JEREMY · 2010 to 2011
$157k
Howard Hughes Medical InstituteNICHD NIH HHS P50 HD068157NICHD NIH HHS R03 HD064628
6 · The paper itself

Abstract

Although hundreds of knockout mice show infertility as a major phenotype, the causative genic mutations of male infertility in humans remain rather limited. Here, we report the identification of a missense mutation (D136G) in the X-linked TAF7L gene as a potential cause of oligozoospermia in men. The human aspartate (D136) is evolutionally conserved across species, and its change to glycine (G) is predicted to be detrimental. Genetic complementation experiments in budding yeast demonstrate that the conserved aspartate or its analogous asparagine (N) residue in yeast TAF7 is essential for cell viability and thus its mutation to G is lethal. Although the corresponding D144G substitution in the mouse Taf7l gene does not affect male fertility, RNA-seq analyses reveal alterations in transcriptomic profiles in the Taf7l (D144G) mutant testes. These results support TAF7L mutation as a risk factor for oligozoospermia in humans.

Indexed as

Infertility, MaleOligospermiaTATA-Binding Protein Associated FactorsTranscription Factor TFIIDAnimalsAspartic AcidGenes, X-LinkedHumansMaleMiceMutationMutation, MissenseAspartic AcidTAF7L protein, mouseTAF7 protein, humanTATA-Binding Protein Associated FactorsTranscription Factor TFIIDCharacterization of missense mutation in TAF7L geneinfertilityoligozoospermiaspermatogenesisTAF7Ltranscription factorX chromosome

Identifiers

PMID35554494
PMCPMC9310510
OpenAlexW4280505890

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.