γ -actin （ACTG1） gene is a cytoplasmic nonmuscle actin gene, which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea. Mutations in ACTG1 were found to cause autosomal dominant, progressi...γ -actin （ACTG1） gene is a cytoplasmic nonmuscle actin gene, which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea. Mutations in ACTG1 were found to cause autosomal dominant, progressive, sensorineural hearing loss linked to the DFNA 20/26 locus on chromosome 17q25.3 in European and American families, respectively. In this study, a novel missense mutation （c.364A〉G; p.I122V） co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. The alteration of residue Ile122 was predicted to damage its interaction with actin-binding proteins, which may cause disruption of hair cell organization and function. These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.展开更多
Dear Editor,The coronavirus disease 2019(COVID-19)pandemic has resulted in 763 million cases and over 6 million deaths as of April 2023.Given the high prevalence and widespread distribution of coronaviruses,the geneti...Dear Editor,The coronavirus disease 2019(COVID-19)pandemic has resulted in 763 million cases and over 6 million deaths as of April 2023.Given the high prevalence and widespread distribution of coronaviruses,the genetic diversity and frequent recombination of their genomes,as well as the increased activity at the human-animal interface,are critical for global public health and socioeconomic impact(Zhu et al.,2020).展开更多
Dear Editor, First discovered during 1947 in Uganda from febrile rhesus macaques, Zika virus （ZIKV） is a mosquito-borne, reemerging flavivirus historically known to be present in much of Africa and Asia, occasionall...Dear Editor, First discovered during 1947 in Uganda from febrile rhesus macaques, Zika virus （ZIKV） is a mosquito-borne, reemerging flavivirus historically known to be present in much of Africa and Asia, occasionally causing outbreaks amongst the local populace （Haddow et al., 2012）. ZIKV infections in humans are mostly asymptomatic, but a small percentage of patients may show clinical symptoms such as a fever and rash, which resolve within a week or less.展开更多
基金the National Natural Science Foundation of China (No. 30670736 and 30500168)the Department of Science and Technology of Jiangsu Province (No. BS2006533).
文摘γ -actin （ACTG1） gene is a cytoplasmic nonmuscle actin gene, which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea. Mutations in ACTG1 were found to cause autosomal dominant, progressive, sensorineural hearing loss linked to the DFNA 20/26 locus on chromosome 17q25.3 in European and American families, respectively. In this study, a novel missense mutation （c.364A〉G; p.I122V） co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. The alteration of residue Ile122 was predicted to damage its interaction with actin-binding proteins, which may cause disruption of hair cell organization and function. These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.
基金supported by the Science and Technology Program of Zhejiang Province (#2022C03017)Key Research and Development Program of Zhejiang Province (#2021C03044)+1 种基金Major Health Science and Technology Projects of Zhejiang Province (#WKJ-ZJ-2105)National Key R&D Program of China (#2021YFC2301200).
文摘Dear Editor,The coronavirus disease 2019(COVID-19)pandemic has resulted in 763 million cases and over 6 million deaths as of April 2023.Given the high prevalence and widespread distribution of coronaviruses,the genetic diversity and frequent recombination of their genomes,as well as the increased activity at the human-animal interface,are critical for global public health and socioeconomic impact(Zhu et al.,2020).
文摘Dear Editor, First discovered during 1947 in Uganda from febrile rhesus macaques, Zika virus （ZIKV） is a mosquito-borne, reemerging flavivirus historically known to be present in much of Africa and Asia, occasionally causing outbreaks amongst the local populace （Haddow et al., 2012）. ZIKV infections in humans are mostly asymptomatic, but a small percentage of patients may show clinical symptoms such as a fever and rash, which resolve within a week or less.
