Related Experiment Video

Updated: Dec 23, 2025

Author Spotlight: Investigating the Mechanisms and Inducing Models of Polycystic Ovary Syndrome

Author Spotlight: Investigating the Mechanisms and Inducing Models of Polycystic Ovary Syndrome

Published on: July 5, 2024

Homozygous variants in SYCP2L cause premature ovarian insufficiency

Wen-Bin He^1,2,3, Chen Tan¹, Ya-Xin Zhang¹

¹Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha 410078, Hunan, China.

Journal of Medical Genetics

|April 19, 2020

Abstract

Background:

The genetic causes of the majority of cases of female infertility caused by premature ovarian insufficiency (POI) are unknown.

Objective:

To identify the genetic causes of POI in 110 patients.

Methods:

Whole-exome sequencing was performed on 110 patients with POI, and putative disease-causative variants were validated by Sanger sequencing. Bioinformatic and in vitro functional analyses were performed for functional characterisation of the identified candidate disease-causative variants.

Results:

We identified two homozygous variants (NM_001040274: c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L in two patients, which had co-segregated with POI in these families. Bioinformatic analysis predicted that the two variants are deleterious, and in vitro functional analysis showed that mutant SYCP2L proteins exhibited mislocalisation and loss of function.

Conclusions:

SYCP2L is a novel gene found to be responsible for human POI. Our findings provide a potential molecular marker for POI and improve the understanding of the genetic basis of female infertility.

Keywords:

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome

Published on: October 2, 2018

Related Concept Videos

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Oogenesis

Oogenesis

In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...

Nondisjunction

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...

Nondisjunction

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Articles linked to this work by shared authors, journal, and citation graph.

Repurposing SKQ1 as a meropenem potentiator against NDM-1-producing Escherichia coli.

Virulence·2026

Nanostructured lipid carrier-based gels for nutraceutical delivery: A colloidal perspective beyond traditional emulsion gel systems.

Advances in colloid and interface science·2026

Single-nucleus transcriptomic data of susceptible and resistant tobacco stems after black shank infection.

Data in brief·2026

A Modular T4 Phage-Based Nanoparticle Displaying Multiepitopes Provides Cross-Serotype Protection against Streptococcus suis in Mice and Swine.

ACS infectious diseases·2026

Mutation Severity of FBXO43 Determines Spermatogenic Outcome and Informs Precision ART Strategies.

Human mutation·2026

Dynamic Diels-Alder Chemistry Toward Degradable and Dual Closed-Loop Recyclable Polyolefins.

Angewandte Chemie (International ed. in English)·2026

See all related articles