Evidence map›Paper›PMID 42443317›Full record

ArticleJournal of human genetics2026

Novel variants in LINC and TTM complexes of meiotic chromosome dynamics are associated with meiotic arrest and non-obstructive azoospermia.

Qian Sun, Wenbo Li, Jiyu Meng, Yuxiang Zhang, Xinjie Bu, Jian Huang, Dewei Qian, Na Li, Erlei Zhi, Ruhui Tian and 7 more

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Article in Journal of human 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

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4 · The record

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5 · Who and what money

Authors and funding

17 authors.

Qian Sun *State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, China.
Wenbo Li *Department of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Jiyu Meng *Department of Urology, Reproductive Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Yuxiang ZhangDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Xinjie BuDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Jian HuangDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Dewei QianDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Na LiDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Erlei ZhiDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID http://orcid.org/0000-0003-3781-8319
Ruhui TianDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yuhua HuangDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Jingpeng ZhaoDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID http://orcid.org/0000-0003-4470-2816
Fujun ZhaoDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yanfei RuDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Gang LiuDepartment of Urology, Reproductive Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. dr.lg@163.com.
Zheng LiState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, China. lizhengboshi@sjtu.edu.cn.
Chencheng YaoDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Reproductive Medicine Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. yaochencheng@sjtu.edu.cn.ORCID http://orcid.org/0000-0002-8820-7895

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Non-obstructive azoospermia (NOA) represents the most severe type of male infertility. The linker of nucleoskeleton and cytoskeleton (LINC) complex and the TERB1-TERB2-MAJIN (TTM) telomere-tethering complex are essential for meiotic chromosome dynamics; however, pathogenic variants in these pathways have rarely been characterized in human NOA. In this study, whole-exome sequencing (WES) identified novel bi-allelic variants in genes encoding components of the LINC and TTM complexes in patients with NOA, including compound heterozygous variants in KASH5 (NM_144688.5:c.149-1G>A; NM_144688.5:c.876+1G>A), homozygous variant in TERB1 (NM_001136505:c.1814G>A, p.Arg605Gln), compound heterozygous variants in TERB2 (NM_152448.3:c.39dup, p.Ser14Ter; NM_152448.3:c.522A>G, p.Thr174Thr), and homozygous splice-site variant in MAJIN (NM_001318808.2:c.219+1G>T). Testicular histology and immunofluorescence analyses concordantly demonstrated a shared phenotype of meiotic prophase I arrest and absence of post-meiotic germ cells in these patients. Minigene assays demonstrated that the splice-site variants in KASH5 (c.149-1G>A; c.876+1G>A), TERB2 (c.522A>G), and MAJIN (c.219+1G>T) induced aberrant exon-skipping events. The frameshift variant in TERB2 (c.39dup) resulted in complete loss of protein expression, whereas the missense variant of TERB1 (c.1814G>A) led to markedly reduced protein levels and disruption of the TRF1-binding domain via in silico structural modeling. Collectively, this study demonstrated that novel variants in LINC and TTM complexes of meiotic chromosome dynamics are associated with meiotic arrest and NOA, which expanded the mutational spectrum of LINC- and TTM-related genes and deepen our knowledge of the role of LINC- and TTM-complex in male fertility.

Indexed as

AzoospermiaCell Cycle ProteinsMeiosisExome SequencingHumansMaleMutationTelomereCell Cycle Proteins

Identifiers

PMID42443317

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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.