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Gilbert's syndrome: High frequency of the (TA)_7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene

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World Journal of Gastroenterology 2006年第14期12卷 2269-2275页

作者： Shabana Farheen Sanghamitra Sengupta Amal Santra Suparna Pal Gopal Krishna Dhali Meenakshi Chakravorty Partha P Majumder Abhijit Chowdhury Human genetics Unit Indian Statistical institute KolkataIndia Department of Gastroenterology institute of Postgraduate medical Education & Research KolkataIndia Human genetics & genomics Division Indian institute of Chemical Biology KolkataIndia

AIM： To identify the variants in U rase 1 （UGT1A1） gene in Gilbert＇s syndrome （GS） and to estimate the association between homozygosity for TA insertion and GS in India, as well as the frequency of TA insertion and its impact among normal controls in India. METHODS： Ninety-five GS cases and 95 normal controls were selected. Liver function and other tests were done. The promoter and all 5 exons of UGT1A1 gene were resequenced. Functional assessment of a novel trinucleotide insertion was done by in silico analysis and by estimating UGT1A1 promoter activity carried out by ludferase reporter assay of appropriate constructs in Hep G2 cell line. RESULTS： Among the GS patients, 80% were homozygous for the TA insertion, which was several-fold higher than reports from other ethnic groups. The mean UCB level was elevated among individuals with only one copy of this insertion, which was not significantly different from those with two copies. Many new DNA variants in UGT1A1 gene were discovered, including a trinucleotide （CAT） insertion in the promoter found in a subset （10%） of GS patients, but not among normal controls. In-silico analysis showed marked changes in the DNA-folding of the promoter and functional analysis showed a 20-fold reduction in transcription efficiency of UGT1A1 gene resulting from this insertion, thereby significantly elevating the UCB level. CONCLUSION： The genetic epidemiology of GS is variable across ethnic interactions among UGT1A1 groups and the epistatic promoter variants modulate bilirubin glucuronidation.

关键词： Unconjugated hyperbilirubinemia UGT1A1 gene DNA resequencing Luciferase reporter assay

Two cases of variant late infantile ceroid lipofuscinosis in Jordan

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World Journal of Clinical Cases 2019年第2期7卷 203-208页

作者： Omar Nafi Bashar Ramadan Olaf Riess Rebecca Buchert Tawfiq Froukh Department of Pediatrics Faculty of Medicine Mutah University institute of medical genetics and applied genomics Rare Disease Center University of Tübingen Department of Biotechnology and Genetic Engineering Philadelphia University

BACKGROUND Late infantile ceroid lipofuscinosis is a rare neurodegenerative disorder that appears between the ages of 2 and 4 years and is difficult to diagnose. In this report we present two sisters with this condition, and the clinical course consisted of delayed developmental skills initially and later regression of previously acquired skills. The cases were initially considered as childhood disintegrative disorder(CDD); however, when whole exome sequencing(WES) genetic testing was done, they proved to be variant late infantile ceroid lipofuscinosis. This is the first report from *** SUMMARY Clinical presentation included developmental delay and initially speech delay,followed by lose of sphincter control. Motor development was normal until 4 years of age, then they developed ataxia(fear of going downstairs) and weakness while walking. Atonic and myoclonic seizures become intractable, and this was followed by inability to stand or sit and loss of expressive language. In addition to complete blood count test, liver function test, kidney function test, serum electrolyte test, and blood sugar test, serum amino acid profile, B12 level test,thyroid function test, and a brain computed tomography scan were also *** electroencephalogram showed a generalized spike and wave pattern, and magnetic resonance imaging showed little to no abnormalities. After dealing with the cases as CDD, WES testing proved a final diagnosis of variant late infantile ceroid lipofuscinosis. Current treatment is anti-epileptic drugs and supportive care at home, and they are now in vegetative *** This report highlights the importance of WES for the identification of genetic diseases, especially neurodegenerative disorders.

关键词： Ceroid lipofuscinosis Childhood disintegrative disorder Lysosomal storage disorders Neurodegenerative disorders Variant late infantile Case report

The next generation of cancer management

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Cancer Biology & Medicine 2016年第1期13卷 1-2页

作者： Wayne W.Grody Divisions of medical genetics and Molecular Diagnostics Departments of Pathology & Laboratory Medicine Pediatrics and Human Genetics UCLA School of Medicine UCLA Institute for Society and Genetics Molecular Diagnostic Laboratories and Clinical Genomics Center UCLA Medical Center

As readers of Cancer Biology and Medicine well know,there has been a seismic shift in human molecular biology over the past few years,as momentous in its own way as the discovery of the double-helical structure of DNA by Watson and Crick 60 years ago,the elucidation of the genetic code shortly thereafter,the advent of recombinant DNA and gene cloningin the 1970s, and the introduction of the polymerase chain reaction in the mid-1980s.

关键词： Next-generation sequencing tumor sequencing targeted sequencing incidental findings variants of uncertain significance

Expression and responses to dehydration and salinity stresses of V-PPase gene members in wheat

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Journal of genetics and genomics 2009年第12期36卷 711-720页

作者： Yuezhi Wang Haibin Xu Guangxiang Zhang Huilan Zhu Lixia Zhang Zhengzhi Zhang Caiqin Zhang Zhengqiang Ma The applied Plant genomics Laboratory Crop Genomics and Bioinformatics Center & National Key Lab of Crop Genetics and Germplasm Enhancement Nanjing Agricultural University Nanjing 210095 China

Vacuolar H^＋-translocating pyrophosphatase （V-PPase） is a key enzyme related to plant growth as well as abiotic stress tolerance. In this work, wheat V-PPase genes TaVP1, TaVP2 and TaVP3 were identified. TaVP1 and TaVP2 are more similar to each other than to TaVP3. Their deduced polypeptide sequences preserve the topological structure and essential residues of V-PPases. Phylogenetic studies suggested that monocot plants, at least monocot grasses, have three VP paralogs. TaVP3 transcripts were only detected in developing seeds, and no TaVP2 transcripts were found in germinating seeds. TaVP2 was mainly expressed in shoot tissues and down-regulated in leaves under dehydration. Its expression was up-regulated in roots under high salinity. TaVP1 was relatively more ubiquitously and evenly expressed than TaVP2. Its expression level in roots was highest among the tissues examined, and was inducible by salinity stress. These results indicated that the V-PPase gene paralogs in wheat are differentially regulated spatially and in response to dehydration and salinity stresses.

关键词： vacuolar H^+-pyrophosphatase abiotic stress phylogenetic analysis

Plant pattern-recognition receptors controlling innate immunity

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Science China(Life Sciences) 2016年第9期59卷 878-888页

作者： Lei Li Yufei Yu Zhaoyang Zhou Jian-Min Zhou State Key Laboratory of Plant genomics Institute of Genetics and Developmental Biology Chinese Academy of Sciences

Plants are exposed to numerous potential pathogenic microbes. To counter the threat, plants have evolved diverse patternrecognition receptors(PRRs), which are receptor kinases(RKs) and receptor proteins(RPs) specialized to detect conserved pathogen/microbe-associated molecular patterns(PAMPs/MAMPs). Although only a handful of RKs and RPs are known PRRs,they belong to the receptor-like kinase(RLK) and receptor-like protein(RLP) superfamilies that undergo lineage-specific expansion, suggesting that many of these RLKs and RLPs are potential PRRs. Analyses of existing PRRs have uncovered ligand-induced RLK-RK or RLK-RP oligomerization as a common mechanism for immune activation. PRRs can recruit additional components to form dynamic receptor complexes, which mediate specific cellular responses. Detailed analyses of these components are shedding light on molecular mechanisms underlying the regulation of PRR activity and downstream signaling.

关键词： receptor kinase receptor protein receptor-like cytoplasmic kinase plant innate immunity

Ectopic expression of soybean GmKNT1 in Arabidopsis results in altered leaf morphology and flower identity

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Journal of genetics and genomics 2008年第7期35卷 441-449页

作者： Jun Liu Da Ha Zongming Xie Chunmei Wang Huiwen Wang Wanke Zhang Jinsong Zhang Shouyi Chen National Key Laboratory of Plant genomics Institute of Genetics and Developmental Biology Chinese Academy of Sciences Beijing 100101 China

Plant morphology is specified by leaves and flowers, and the shoot apical meristem （SAM） defines the architecture of plant leaves and flowers. Here, we reported the characterization of a soybean KNOX gene GmKNT1, which was highly homologous to Arabidopsis STM. The GmKNT1 was strongly expressed in roots, flowers and developing seeds. Its expression could be induced by IAA, ABA and JA, but inhibited by GA or cytokinin. Staining of the transgenic plants overexpressing GmKNT1-GUS fusion protein revealed that the GmKNT1 was mainly expressed at lobe region, SAM of young leaves, sepal and carpel, not in seed and mature leaves. Scanning electron microscopy （SEM） disclosed multiple changes in morphology of the epidermal cells and stigma. The transgenic Arabidopsis plants overexpressing the GmKNT1 showed small and lobed leaves, shortened internodes and small clustered inflorescence. The lobed leaves might result from the function of the meristems located at the boundary of the leaf. Compared with wild type plants, transgenic plants had higher expression of the SAM-related genes including the CUP, WUS, CUC1, KNAT2 and KNAT6. These results indicated that the GmKNT1 could affect multiple aspects of plant growth and development by regulation of downstream genes expression.

关键词： soybean ectopic expression GmKNT1 KNOX genes development

Expression of the human TSPY gene in the brains of transgenic mice suggests a potential role of this Y chromosome gene in neural functions

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Journal of genetics and genomics 2011年第5期38卷 181-191页

作者： Tatsuo Kido Stephanie Schubert Jrg Schmidtke Yun-Fai Chris Lau Division of Cell and Developmental genetics Department of MedicineVA Medical Centerand Institute for Human GeneticsUniversity of California institute of Human genetics Hannover Medical School

The testis specific protein Y-encoded （TSPY） is a member of TSPY/SET/NAP1 superfamily, encoded within the gonadoblastoma locus on the Y chromosome. TSPY shares a highly conserved SET/NAP-domain responsible for protein--protein interaction among TSPY/SET/NAP 1 proteins. Accumulating data, so far, support the role of TSPYas the gonadoblastoma gene, involved in germ cell tumorigenesis. The X-chromosome homolog of TSPY, TSPX is expressed in various tissues at both fetal and adult stages, including the brain, and is capable of interacting with the multi-domain adapter protein CASK, thereby influencing the synaptic and transcriptional functions and developmental regulation of CASK in the brain and other neural tissues. Similar to TSPX, we demonstrated that TSPY could interact with CASK at its SET/NAP-domain in cultured cells. Transgenic mice harboring a human TSPYgene and flanking sequences showed specific expression of the human TSPYtransgene in both testis and brain. The neural expression pattern of the human TSPYgene overlapped with those of the endogenous mouse Cask and Tspx gene. Similarly with TSPX, TSPY was co-localized with CASK in neuronal axon fibers in the brain, suggesting a potential role（s） of TSPY in development and/or physiology of the nervous system.

关键词： TSPY TSPX CASK Y chromosome Neuron Testis

Sulfide-based ATP production in Urechis unicinctus

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Chinese Journal of Oceanology and Limnology 2010年第3期28卷 521-526页

作者：马卓君包振民王思锋张志峰 Key Laboratory of Marine genetics and Breeding of Ministry of Education Ocean University of China The Centre for applied Aquatic genomics Chinese Academy of Fishery Sciences Biology institute of Shandong Academy of Sciences

We measured sulfide-based ATP production by isolated mitochondria from four tissues of Urechis unicinctus and the effects of inhibitors of respiratory complexes on ATP production were evaluated. The results show that these mitochondria could oxidize sulfide to produce ATP. The yield of sulfide-stimulated ATP varied from 5 nmol ATP/min/mg to 90 nmol ATP/min/mg according to the sulfide concentration and the source of the mitochondria. The maximum ATP synthesis occurred in hindgut mitochondria using 5 μmol/L sulfide as a substrate. The effects of inhibitors (Rotenone, Antimycin A, Cyanide, and Salicylhydroxamic acid) on mitochondrial ATP production varied with the source of the mitochondria. Our results indicate that sulfide-based ATP production and the associated electron transport pathway are tissue-specific in U. unicinctus.

关键词： Urechis unicinctus sulfide oxidation mitochondria ATP production inhibitor

The secret of fertilization in flowering plants unveiled

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Science Bulletin 2018年第7期63卷 408-410页

作者： Xiangxiu Liang Jian-Min Zhou State Key Laboratory of Plant genomics Institute of Genetics and Developmental Biology Chinese Academy of Sciences

As recapitulated in the famous Chinese fairy tale Journey to the West,the Buddhist monk Xuanzang of the Tang Dynasty(Tangseng)took a heroic journey in a quest for India Buddhist sacred *** long and dangerous journey was made possible only with the help of the powerful Monkey King,who had been pinned down under a mountain by the Buddha as a punishment for his prior *** Buddha had to secure the

关键词：授精植物旅行猴子佛家佛像封口