Evidence map›Paper›PMID 41706353›Full record

ArticleJournal of assisted reproduction and genetics2026

A common cause of non-obstructive azoospermia: biallelic MEI1 variants and implications for infertility diagnostics.

Chen Tan, Tiantian Wang, Chaofeng Tu, Chunbo Xie, Zixu Chen, Shimin Yuan, Tongyao Hu, Wenbin He, Yong Li, Yurong Wang and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

19 authors.

Chen Tan *NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Tiantian Wang *NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Chaofeng TuNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Chunbo XieNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Zixu ChenNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Shimin YuanNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Tongyao HuNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Wenbin HeClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive & Genetic Hospital CITIC-Xiangya, Changsha, China.
Yong LiNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Yurong WangNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Chen LuoNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Qianjun ZhangNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Hongchuan NieClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive & Genetic Hospital CITIC-Xiangya, Changsha, China.
Huan ZhangNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Guangxiu LuClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive & Genetic Hospital CITIC-Xiangya, Changsha, China.
Ge LinNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Yue-Qiu TanNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China.
Lanlan MengNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China. 216501007@csu.edu.cn.
Juan DuNHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China. tandujuan@csu.edu.cn.

Funding

National Key Research and Development Program of China 2023YFC2705605the Graduate Research and Innovation Projects of Central South University 2024ZZTS0155
6 · The paper itself

Abstract

purposeInfertility affects about 15% of couples globally, with genetic factors contributing significantly. Advances in genomic technologies have led to the discovery of genes like MEI1, which play a crucial role in meiosis. However, the population prevalence and pathological mechanisms of human MEI1 variants remains poorly defined.

methodsTo elucidate the contribution of MEI1 to spermatogenic failure, initial screening for biallelic mutations was conducted in 626 non-obstructive azoospermia (NOA) patients, followed by targeted screening for heterozygous variants in a validation cohort comprising 1,607 well-characterized idiopathic male infertility cases (626 NOA, 799 severe oligoasthenospermia, and 182 terato/asthenozoospermia).

resultsHere, we identify MEI1 as a prominent gene associated with non-obstructive azoospermia (NOA), with biallelic pathogenic variants in MEI1 were identified in 12 individuals (1.9%, 12/626). Furthermore, heterozygous MEI1 mutations were identified in 28 patients (0.17%, 28/1607) from the broader infertility screening cohort implicate MEI1 in a wider phenotypic spectrum, broadening its clinical relevance. Critically, micro-TESE uniformly showed no sperm retrieval in individuals carrying biallelic MEI1 mutations, underscoring the imperative for preemptive genetic screening to avoid unnecessary surgical interventions. Mechanistically, these mutations disrupted interactions with key meiotic proteins (ANKRD31, IHO1, REC114, MEI4) in co-immunoprecipitation assays.

conclusionThese results not only elucidate its essential function in meiosis and DSB formation but also support its potential as a molecular marker for non-invasive diagnosis.

Indexed as

AzoospermiaCell Cycle ProteinsInfertility, MaleAdultAllelesHumansMaleMeiosisMutationSpermatogenesisCell Cycle ProteinsMale infertilityMEI1Meiotic arrestNon-obstructive azoospermiaWhole-exome sequencing

Identifiers

PMID41706353
PMCPMC13103121

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