Journal of Genetics and Genomics

Postnatal critical-period brain plasticity and neurodevelopmental disorders: revisited circuit mechanisms

Ziwei Shang, Xiaohui Zhang

doi: 10.1016/j.jgg.2025.07.006

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Abstract:
Critical periods (CPs) are defined as postnatal developmental windows during which brain circuits exhibit heightened sensitivity to altered experiences or sensory inputs, particularly during brain development in humans and animals. During the CP, experience-induced refinements of neural connections are crucial for establishing adaptive and mature brain functions, and aberrant CPs are often accompanied by many neurodevelopmental disorders (NDDs), including autism spectrum disorders and schizophrenia. Understanding neural mechanisms underlying the CP regulation is key to delineating the etiology of NDDs caused by abnormal postnatal neurodevelopment. Recent evidence from studies using innovative experimental tools has continuously revisited the inhibition-gating theory of CP to systematically elucidate the differential roles of distinct inhibitory circuits. Here, we provide a comprehensive review of classical experimental findings and emerging inhibitory-circuit regulation mechanisms of the CP, and further discuss how aberrant CP plasticity is associated with NDDs.

Jasmonate signaling: integrating stress responses with developmental regulation in plants

Yanbing Li, Fangming Wu, et al.

doi: 10.1016/j.jgg.2025.07.007

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Abstract:
Jasmonates (JAs) are essential phytohormones that coordinate plant defense and development in response to unpredictable environments. Recent scientific advances have highlighted the SCF^COI1-JAZ-MYC2-MED25 module as a central hub for JA signaling, orchestrating transcriptional repression, derepression, activation, amplification, and feedback termination. This review summarizes current insights into the roles of JA in the regulation of biotic and abiotic stress responses and agronomic traits, including root development, regeneration, fertility, flowering, leaf senescence, and seed development, with a particular emphasis on the crosstalk between JA and a wound-induced peptide hormone, systemin, which mediates systemic wound responses. A deeper understanding of the JA regulatory mechanisms will provide valuable strategies for engineering crops with enhanced stress resilience and improved yields. We further propose JA-based strategies as a promising avenue for crop improvement.

Receptor-like protein 51 regulates brassinosteroid signaling by promoting the abundances of BRI1 and BAK1

Yuan Fang, Pengcheng Li, et al.

doi: 10.1016/j.jgg.2025.07.005

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Abstract:
Brassinosteroids (BRs) are essential phytohormones that broadly regulate plant growth, development, and adaptation to biotic and abiotic stresses. In Arabidopsis, apoplastic BR molecules are perceived by a plasma membrane-localized receptor complex comprising the ligand-binding receptor BRI1 and the co-receptor BAK1. While negative regulators of the BR receptor complex, such as BKI1, BIR3, and PUB12/13, have been well characterized, how BRI1 and BAK1 are positively modulated in the BR pathway remains largely unknown. In this study, a genetic screen involving overexpression of RLP genes in the bak1-3 bkk1-1 double mutant reveals that enhanced RLP51 expression partially suppresses the BR-deficient phenotypes of bak1-3 bkk1-1. RLP51 overexpression also partially rescues the weak bri1 mutant allele, bri1-301. Although the rlp51 single mutant exhibits wild-type-like phenotypes, it enhances BR-defective phenotypes in bri1-301 and bak1 serk1 mutants. RLP51 is next found to interact with both BRI1 and BAK1 without affecting BRI1-BAK1 interaction. Critically, co-expression of RLP51 with BRI1 or BAK1 significantly increases BRI1 and BAK1 protein abundances. RLP51 appears to promote protein synthesis rather than stabilize BRI1 and BAK1 proteins. Thus, our study identifies RLP51 as a positive regulator of BR signaling that enhances the protein levels of BRI1 and BAK1.

Whole-genome sequencing provides insights into the evolutionary adaptation and conservation of gibbons

Wang Guiqiang, Wu Yajiang, et al.

doi: 10.1016/j.jgg.2025.07.004

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Abstract:
Gibbons are small, arboreal apes that play a critical role in tropical biodiversity and ecosystem ecology. However, nearly all species of gibbons are threatened by habitat loss, illegal trade, hunting, and other human activities. Long-term poor understanding of their genetics and evolution undermines effective conservation efforts. In this study, we analyse comparative population genomic data of four Nomascus species. Our results reveal strong genetic differentiation among these species as well as gene flow among Nomascus species. Additionally, we identify genomic features that are potentially related to natural selection linked to vocalization, fructose metabolism, motor balance, and body size, consistent with the unique phenotype and adaptability of gibbons. Inbreeding coupled with population declines due to climate change and historical human activities leads to reduced genetic diversity and the accumulation of deleterious variation that likely affects cardiovascular disease and the reproductive potential of gibbons and further reduces their fitness, highlighting the urgent need for effective conservation strategies.

Genetic landscape of hereditary cardiomyopathies and arrhythmias in China

Yang Lu, Zeyuan Wang, et al.

doi: 10.1016/j.jgg.2025.07.003

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Abstract:

Hereditary cardiomyopathies and arrhythmias are major contributors to cardiovascular morbidity and mortality. The advent of next-generation sequencing (NGS) has made genetic testing more accessible, which is crucial for precise diagnosis and targeted therapeutic strategies. The aim of this study is to explore the landscape of genetic variants, the relationship between specific variants and clinical phenotypes, and the impact on clinical decision-making in China. A total of 1,536 probands (median age, 37 years; 1,025 males [66.7%]) with suspected hereditary cardiomyopathy or arrhythmia (covering 15 clinical phenotypes) are recruited from 146 hospitals across 30 provinces and cities in China. Positive results are confirmed in 390 of 1536 probands, leading to a diagnostic yield of 25.4%. Forty-two and three tenths percent (n = 169) of family members carry the same variants as positive probands. Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the predominant phenotypes, with MYBPC3 variants having the highest frequency in HCM and TTN variants in DCM. In 76.9% of the positive probands, the identified variants are helpful in clinical management, family screening and fertility. This large-scale study provides significant insights into the genetic landscape of hereditary cardiomyopathies and arrhythmias in China.

Coiled-coil domain-containing 38 is required for acrosome biogenesis and fibrous sheath assembly in mice

Yaling Wang, Xueying Huang, et al.

doi: 10.1016/j.jgg.2023.09.002

Abstract (124) PDF (7)

Abstract:
During spermiogenesis, haploid spermatids undergo dramatic morphological changes to form slender sperm flagella and cap-like acrosomes, which are required for successful fertilization. Severe deformities in flagella cause a male infertility syndrome, multiple morphological abnormalities of the flagella (MMAF), while acrosomal hypoplasia in some cases leads to sub-optimal embryonic developmental potential. However, evidence regarding the occurrence of acrosomal hypoplasia in MMAF is limited. Here, we report the generation of base-edited mice knocked out for coiled-coil domain-containing 38 (Ccdc38) via inducing a nonsense mutation and find that the males are infertile. The Ccdc38-KO sperm display acrosomal hypoplasia and typical MMAF phenotypes. We find that the acrosomal membrane is loosely anchored to the nucleus and fibrous sheaths are disorganized in Ccdc38-KO sperm. Further analyses reveal that Ccdc38 knockout causes a decreased level of TEKT3, a protein associated with acrosome biogenesis, in testes and an aberrant distribution of TEKT3 on sperm. We finally show that intracytoplasmic sperm injection overcomes Ccdc38-related infertility. Our study thus reveals a previously unknown role for CCDC38 in acrosome biogenesis and provides additional evidence for the occurrence of acrosomal hypoplasia in MMAF.