Evidence map›Paper›PMID 35718780›Full record

ArticleBMC medical genomics2022

Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.

Yuhua Huang, Ruhui Tian, Junwei Xu, Zhiyong Ji, Yuxiang Zhang, Liangyu Zhao, Chao Yang, Peng Li, Erlei Zhi, Haowei Bai and 7 more

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

Article in BMC medical genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.7field-weighted citation impact, top 15% 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

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Gene Polymorphism, Microdeletion, and Gene Expression ofReports of biochemistry & molecular biology · 2023
    Article
  6. 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

17 authors at 5 institutions in 1 country.

Yuhua Huang *Department of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China.
Ruhui Tian *Department of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China.
Junwei Xu *Department of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China.
Zhiyong JiState Key Lab of Reproductive Medicine, Nanjing Medical University, Nanjing, 211166, China.
Yuxiang ZhangDepartment of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China.
Liangyu ZhaoDepartment of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China.
Chao YangDepartment of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China.
Peng LiDepartment of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China.
Erlei ZhiDepartment of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China.
Haowei BaiDepartment of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China.
Sha HanDepartment of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China.
Jiaqiang LuoDepartment of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China.
Jingpeng ZhaoState Key Lab of Reproductive Medicine, Nanjing Medical University, Nanjing, 211166, China.
Jing ZhangReproductive Medicine Research Center, The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou, 510620, China.
Zhi ZhouSchool of Life Science and Technology, ShanghaiTech University, Shanghai, 201210, China. zhouzhi@shanghaitech.edu.cn.
Zheng LiDepartment of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China. lizhengboshi@sjtu.edu.cn.
Chencheng YaoDepartment of Andrology, Shanghai Key Laboratory of Reproductive Medicine, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, 200080, China. yaochencheng@126.com.
Shanghai First People's Hospital · CNNanjing Medical University · CNShanghai Jiao Tong University · CNShanghaiTech University · CNSixth Affiliated Hospital of Sun Yat-sen University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNon-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for majority of NOA remain unknown.

methodsTwo Chinese NOA-affected patients were recruited to identify the genetic causal factor of infertility. Whole-exome sequencing (WES) was conducted in the two patients with NOA. Sanger sequencing and CNV array were used to ascertain the WES results. Hematoxylin and eosin (H&E) staining and immunofluorescence (IF) were carried out to evaluate the stage of spermatogenesis arrested in the affected cases.

resultsNovel heterozygous deletion (LOH) within SYCE1 (seq[GRCh37] del(10)(10q26.3)chr10:g.135111754_135427143del) and heterozygous loss of function (LoF) variant in SYCE1 (NM_001143763: c.689_690 del:p.F230fs) were identified in one NOA-affected patient. While homozygous deletion within SYCE1 (seq[GRCh37] del(10)(10q26.3)chr10:g.135340247_135379115del) was detected in the other patient with meiotic arrest. H&E and IF staining demonstrated that the spermatogenesis was arrested at pachytene stage in the two patients with NOA, suggesting these two novel CNVs within SYCE1 could lead to meiotic defect and NOA.

conclusionsWe identified that two novel CNVs within SYCE1 are associated with meiotic arrest and male infertility. Thus, our study expands the knowledge of variants in SYCE1 and provides a new insight to understand the genetic etiologies of NOA.

Indexed as

AzoospermiaDNA-Binding ProteinsInfertility, MaleDNA Copy Number VariationsHomozygoteHumansMaleMutationSequence DeletionDNA-Binding ProteinsSYCP1 protein, humanAzoospermiaCNVsGene mutationsMeiosisSpermatogenesis

Identifiers

PMID35718780
PMCPMC9208180
OpenAlexW4283118534

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.