Chinese giant salamander iridovirus (CGSIV) was isolated from diseased farmed Chinese giant salamanders (Andrias davidianus) in *** is a ranavirus of Iridoviridae family which includes large, icosahedral viruses conta...
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Chinese giant salamander iridovirus (CGSIV) was isolated from diseased farmed Chinese giant salamanders (Andrias davidianus) in *** is a ranavirus of Iridoviridae family which includes large, icosahedral viruses containing circular, double stranded DNA *** is very limited genomic and proteomic information of *** this report, we have determined the complete genome sequence and virion proteome of the *** genome is 10,5375bp, has a G+C content of 55%, and contains 111 open reading frames (ORF).
Mutations in Gap Junction Beta 2(GJB2) have been reported to be a major cause of non-syndromic hearing loss in many populations *** spectrums and frequencies of GJB2 variants vary substantially among different ethnic ...
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Mutations in Gap Junction Beta 2(GJB2) have been reported to be a major cause of non-syndromic hearing loss in many populations *** spectrums and frequencies of GJB2 variants vary substantially among different ethnic groups,and the genotypes of GJB2 in these populations are poorly *** the present study,we carried out a systematic and extended mutational screening of GJB2 gene in a cohort of 1067 Han Chinese non-syndromic hearing loss *** analysis revealed 25(23 known and 2 novel) GJB2 variants in these affected subjects,including 11 known hearing loss-associated ***,the phylogenetic and structural analysis showed that 2 novel variants c.127G>T(p.V43L),c.293G>C (p.R98P) and 3 known c.88A>G(p.I30V),c.107T>C(p.L36P) and c.187G>T(p.V63L) variants which were absent in 203 Chinese controls and localized at highly conserved amino acids,would therefore be considered as candidate pathogenic mutations causing hearing *** our cohort,the allelic frequency of pathogenic mutations in GJB2 gene among these Chinese subjects was 18.88%, and the most predominant mutation was c.235delC accounted for 13.96%.Furthermore,a total of 65 different genotypes(27 novel and 38 known) were identified in this Chinese *** these,21.65%of these probands carried GJB2 pathogenic mutations were suffered from moderate to profound hearing ***,the remaining 78.35%subjects in our cohort may due to other genetic and environmental ***,mutations in GJB2 gene are responsible for approximately one-fifth of non-syndromic hearing loss in Zhejiang Province in this investigation. Our findings also provided evidence of other genetic and environmental factors may contribute to the clinical manifestation of deafness.
叶绿体ATP合成酶的主要功能是利用光合电子传递建立的跨膜质子梯度来合成ATP,它是一个由20多个亚基以一定比例(Ⅰ1Ⅱ1Ⅲ14Ⅳ1和α3β3γ1ε1δ1)组成的大分子蛋白复合物,包括镶嵌在膜内起质子通道作用的CF0和突出于膜外起催化作用的CF1两部分。叶绿体ATP合成酶的生物发生不但需要核基因组与叶绿体基因组的相互协作,还需要一些特殊的核基因编码的调节因子的精密调控。为研究叶绿体ATP合成酶的生物发生机理,我们建立了一套特异性筛选叶绿体ATP合成酶突变体的筛选体系。通过对拟南芥突变体库进行大规模筛选,获得了多个ATP合成酶累积量降低的突变体。进而利用图位克隆、Tail-PCR等方法克隆到两个突变体的突变基因,其分别编码一个功能未知的叶绿体基质蛋白(FBAl和FBA3,Factorsrequired for Biogenesis of the chloroplast ATP synthase)。酵母舣杂交实验表叫FBA1和FBA3分别与ATP合成酶的γ,和β相互作用,表明这两个生物发生因子可能通过与特定的ATP合成酶亚基相互作用而调控ATP合成酶的生物发生。
Attention Deficit/Hyperactivity Disorder (ADHD) is one of the most prevalent psychiatric disorders in children and adults, affecting approximately 3-5% of the *** is characterized clinically by hyperactivity, impulsiv...
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Attention Deficit/Hyperactivity Disorder (ADHD) is one of the most prevalent psychiatric disorders in children and adults, affecting approximately 3-5% of the *** is characterized clinically by hyperactivity, impulsivity and *** we report an insertional mutant wherein the retroviral insertion abolishes the transcription of zebrafish period1b (per1b).PER1 B inhibits zebrafish per1a, per2, and per3 but upregulates ADHD-susceptibility gene lphn3.1.A group of behavioral assays demonstrated that homozygous per1b (-/-) larvae and adult fish are hyperactive, impulsive and inattentive, reminiscent of human ADHD patients.
The stable genomic integration and expression of a large transgene is a major hurdle in gene *** show that the modified piggyBac (PB) transposon system can be used to introduce a 207 kb genomic DNA fragment containing...
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The stable genomic integration and expression of a large transgene is a major hurdle in gene *** show that the modified piggyBac (PB) transposon system can be used to introduce a 207 kb genomic DNA fragment containing the RORγ/γt locus into human cells and ***-mediated transgenesis results in a single copy of a stably inherited and expressed *** results indicate that PB could serve as an effective highcapacity vector for functional analysis of the mammalian genome and for gene therapy in human cells.
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