Evolutionary history and biological adaptation of Han Chinese people on the Mongolian Plateau

hLife, Journal Year: 2024, Volume and Issue: 2(6), P. 296 - 313

Published: April 23, 2024

Complex demographic processes and natural selection pressures are critical to resolving patterns of the molecular genetic basis adaptative traits or complex diseases. Recent ancient genome data allow us trace how key evolved in different human populations over time, connecting population history with disease susceptibility western Eurasians. To fill this gap eastern Eurasians provide deep insights into evolutionary population-specific biological traits, we explored one integrative modern genomic database, including 225 out 5583 genomes first reported here. We comprehensively characterized adaptation Han Chinese individuals on Mongolian Plateau based allele frequency spectrum haplotype-resolved fragments. found strong homogeneity among geographically from Inner Mongolia (IMH). reconstructed their admixture models events, revealing that IMH had a close relationship millet farmers obtained additional gene flow Altaic-speaking populations. The enrichment selected candidate genes suggested essential metabolism-related promoted rapid environmental shifts dietary changes during agricultural innovations. Evolutionary trajectory reconstruction methylenetetrahydrofolate reductase (MTHFR) fatty acid desaturase 1 (FADS1) Neolithic transition period differentiated metabolic rate folate acid. revealed polygenicity pleiotropy genes, indicating recent polygenic adaptations, interactions, genotype-phenotype correlations have contributed architecture

Language: Английский

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Mechanisms of congenital hearing loss caused by GJB2 gene mutations and current progress in gene therapy

Gene, Journal Year: 2025, Volume and Issue: 946, P. 149326 - 149326

Published: Feb. 11, 2025

Language: Английский

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Downregulation of Dmxl2 disrupts the hearing development in mice

Neuroscience, Journal Year: 2025, Volume and Issue: unknown

Published: March 1, 2025

Language: Английский

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Common genetic etiologies of sensorineural hearing loss in Koreans

Genomics & Informatics, Journal Year: 2024, Volume and Issue: 22(1)

Published: Nov. 28, 2024

Abstract Hearing loss is the most common sensory disorder. Genetic factors contribute substantially to this condition, although allelic heterogeneity and variable expressivity make a definite molecular diagnosis challenging. To provide brief overview of genomic landscape sensorineural hearing in Koreans, article reviews genetic etiologies nonsyndromic Koreans as well clinical characteristics, genotype–phenotype correlations, pathogenesis arising from variants observed population. Furthermore, potential associated with age-related loss, identified through genome-wide association studies, are briefly discussed. Understanding these crucial for advancing precise diagnoses developing targeted therapeutic interventions loss.

Language: Английский

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Recent advances in genetic etiology of non-syndromic deafness in children

Frontiers in Neuroscience, Journal Year: 2023, Volume and Issue: 17

Published: Oct. 19, 2023

Congenital auditory impairment is a prevalent anomaly observed in approximately 2–3 per 1,000 infants. The consequences associated with hearing loss among children encompass the decline of verbal communication, linguistic skills, educational progress, social integration, cognitive aptitude, and overall well-being. Approaches to reversing or preventing genetic are limited. Patients mild moderate can only use aids, while those severe acquire speech language through cochlear implants. Both environmental factors contribute occurrence congenital loss, advancements our understanding pathophysiology molecular mechanisms underlying coupled recent progress testing techniques, will facilitate development innovative approaches for treatment screening. In this paper, latest research etiology non-syndromic deafness highest incidence summarized order provide help personalized diagnosis children.

Language: Английский

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Unusual phenotype in 35delG mutation: a case report

Journal of Medical Case Reports, Journal Year: 2024, Volume and Issue: 18(1)

Published: May 11, 2024

Abstract Background Mutations in the GJB2 gene, which encodes protein connexin 26 and is involved inner ear homeostasis, are identified approximately 50% of patients with autosomal recessive nonsyndromic hearing loss, making it one primary causes prelingual loss various populations. The 35delG mutation, most common mutations usually prelingual, bilateral mild to profound, nonprogressive sensorineural loss. Case presentation We present an unusual case 18-year-old Turkish female heterozygous mutation postlingual, profound-sloping, progressive fluctuating unilateral phenotype different from usual findings. Conclusions causing may not always be reflected as expected therefore have audiologic manifestations.

Language: Английский

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Advances in the Study of Etiology and Molecular Mechanisms of Sensorineural Hearing Loss

Cell Biochemistry and Biophysics, Journal Year: 2024, Volume and Issue: unknown

Published: June 7, 2024

Language: Английский

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Genotype–phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1G>A splice site variant of the GJB2 gene (Cx26)

PLoS ONE, Journal Year: 2024, Volume and Issue: 19(10), P. e0309439 - e0309439

Published: Oct. 22, 2024

The audiological features of hearing loss (HL) in patients with autosomal recessive deafness type 1A (DFNB1A) caused by splice site variants the GJB2 gene are less studied than those other this gene. In study, we present DFNB1A a large cohort 134 homozygous variant c.-23+1G>A and 34 biallelic genotypes (n = 168 DFNB1A). We found that preservation thresholds speech frequency range (PTA 0.5,1.0,2.0,4.0 kHz ) c.[-23+1G>A];[-23+1G>A] genotype is significantly better “severe” c.[35delG];[35delG] ( p 0.005) worse “mild” c.[109G>A];[109G>A] 0.041). This finding indicates “medium” pathological effect on function. A detailed clinical analysis showed genotype, HL characterized as congenital or early onset (57.5% before 12 months), sensorineural (97.8%), bilateral, symmetrical (82.8%), variable severity (from mild to profound HL, median threshold PTA 86.73±21.98 dB), an extremely “flat” audioprofile, tendency toward slow progression (a positive correlation age, r 0.144, addition, were preserved females (82.34 dB) males (90.62 0.001). can conclude variant, male sex associated deteriorating auditory function; contrast, female protective factor.

Language: Английский

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Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes

Biomedicines, Journal Year: 2024, Volume and Issue: 12(12), P. 2657 - 2657

Published: Nov. 21, 2024

Background: Hearing loss (HL) is the most common disorder in newborns with a highly heterogeneous genetic background. Despite significant progress screening and identifying genes related to congenital hearing loss, there are still candidate implicated HL that remain undiscovered. Methods: We investigated 43 Chinese families by segregating bilateral sensorineural via whole-exome sequencing (WES) Sanger sequencing. Results: Variants were found 10 known non-syndromic (NSHL) genes, 5 syndromic (SHL) 1 gene, ATP7B. RNA revealed ATP7B mRNA expression developing adult cochleae. The immunohistochemistry of mouse cochlear tissue prominent organ Corti spiral ganglion neuron. Overall, we propose new ATP7B, for novel variants which expands our understanding etiology HL. Conclusions: next-generation could effectively improve etiological diagnosis rate children.

Language: Английский

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[Distribution characteristics and correlation analysis of

PubMed, Journal Year: 2024, Volume and Issue: 38(1), P. 23 - 29

Published: Jan. 1, 2024

To elucidate the correlation between

Language: Английский

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