ArticleAmerican journal of human genetics2020
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 97 citations in OpenAlex.
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Unveiling the expression and mechanistic role of SYCP2 in cervical lesions.Discover oncology · 2025Article
- Evaluation of Risk Factors and a Gene Panel as a Tool for Unexplained Infertility Diagnosis by Next-Generation Sequencing.Medicina (Kaunas, Lithuania) · 2025Review
- Reproductive Risk Estimation Calculator for Balanced Translocation Carriers: An Improved Web-based Resource for Medical Genetics Professionals.Current protocols · 2025Article
- Chronic oral administration of L-carnitine induces testicular injury: in vivo evidence.International urology and nephrology · 2025Article
- A novel loss-of-functionFrontiers in genetics · 2025Article
- Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.The Journal of clinical investigation · 2024Article
- Transcriptome and Metabolome Analyses Reveal High-Altitude Adaptation Mechanism of Epididymis Sperm Maturation in Tibetan Sheep.Animals : an open access journal from MDPI · 2024Article
- Novel Loss-of-FunctionGenes · 2024Article
- Quantitative Proteomic Analysis Reveals Key Proteins Involved in Testicular Development of Yaks.International journal of molecular sciences · 2024Article
- Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Integration of selective sweeps across the sheep genome: understanding the relationship between production and adaptation traits.Genetics, selection, evolution : GSE · 2024Article
- Improving effects of telmisartan on spermatogenic disorder induced by fractionated low-dose irradiation in mice.International urology and nephrology · 2023Article
- Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.Cell cycle (Georgetown, Tex.) · 2023Article
- Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.Human genetics · 2023Article
- Transcriptome analyses in infertile men reveal germ cell-specific expression and splicing patterns.Life science alliance · 2023Article
- Structural maturation of SYCP1-mediated meiotic chromosome synapsis by SYCE3.Nature structural & molecular biology · 2023Article
- Reproductive Risk Estimation Calculator for Balanced Translocation Carriers.Current protocols · 2022Article
- Genetic screening of Chinese patients with hydatidiform mole by whole-exome sequencing and comprehensive analysis.Journal of assisted reproduction and genetics · 2022Article
Corrections and comments
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Authors and funding
12 authors at 9 institutions in 3 countries.
Funding
Abstract
Unexplained infertility affects 2%-3% of reproductive-aged couples. One approach to identifying genes involved in infertility is to study subjects with this clinical phenotype and a de novo balanced chromosomal aberration (BCA). While BCAs may reduce fertility by production of unbalanced gametes, a chromosomal rearrangement may also disrupt or dysregulate genes important in fertility. One such subject, DGAP230, has severe oligozoospermia and 46,XY,t(20;22)(q13.3;q11.2). We identified exclusive overexpression of SYCP2 from the der(20) allele that is hypothesized to result from enhancer adoption. Modeling the dysregulation in budding yeast resulted in disrupted structural integrity of the synaptonemal complex, a common cause of defective spermatogenesis in mammals. Exome sequencing of infertile males revealed three heterozygous SYCP2 frameshift variants in additional subjects with cryptozoospermia and azoospermia. In sum, this investigation illustrates the power of precision cytogenetics for annotation of the infertile genome, suggests that these mechanisms should be considered as an alternative etiology to that of segregation of unbalanced gametes in infertile men harboring a BCA, and provides evidence of SYCP2-mediated male infertility in humans.
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Registered trials
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.