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Protein Subcellular Localization Prediction and Genomic Polymorphism Analysis of the SARS Coronavirus

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Tsinghua Science and Technology 2004年第4期9卷 384-390页

作者：季星来柳树群李岭孙之荣 Institute of Bioinformatics Department of Biological Sciences and BiotechnologyTsinghua University Beijing 100084 China department of medical genetics China Medical University Shenyang 110001China

The cause of severe acute respiratory syndrome (SARS) has been identified as a new coronavi-rus (CoV). Several sequences of the complete genome of SARS-CoV have been determined. The subcellu-lar localization (SubLocation) of annotated open-reading frames of the SARS-CoV genome was predicted using a support vector machine. Several gene products were predicted to locate in the Golgi body and cell nucleus. The SubLocation information was combined with predicted transmembrane information to develop a model of the viral life cycle. The results show that this information can be used to predict the functions of genes and even the virus pathogenesis. In addition, the entire SARS viral genome sequences currently available in GenBank were compared to identify the sequence variations among different isolates. Some variations in the Hong Kong strains may be related to the special clinical manifestations and provide clues for understanding the relationship between gene functions and evolution. These variations reflect the evolu-tion of the SARS virus in human populations and may help development of a vaccine.

关键词： severe acute respiratory syndrome (SARS) subcellular localization viral life cycle genomic polymorphism

Galantamine protects against beta amyloid peptide-induced DNA damage in a model for Alzheimer's disease

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Neural Regeneration Research 2017年第6期12卷 916-917页

作者： Willian O.Castillo Andres Felipe Aristizabal-Pachon department of Biology University of Cauca department of genetics Ribeirao Preto Medical SchoolUniversity of Sao Paulo–USP

Alzheimer’s disease（AD）is the most common type of dementia in elderly *** a growing aging population not only in the United States but also in the worldwide,AD constitutes an emergent public health problem.

关键词： DNA Galantamine protects against beta amyloid peptide-induced DNA damage in a model for Alzheimer’s disease AChE

A STUDY ON CHINESE PHENYLALANINE HYDROXYLASE GENE RESTRICTION SITE POLYMORPHISM

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Science China Chemistry 1988年第12期31卷 1447-1453页

作者：曾溢滔,黄淑帧,陈美珏,张美兰,任兆瑞,徐永华,彭素芬,SAVIO L. C. WOO,胡流清 Laboratory of medical genetics Shanghai Children's Hospital Laboratory of medical genetics Shanghai Children's Hospital Laboratory of medical genetics Shanghai Children's Hospital Laboratory of medical genetics Shanghai Children's Hospital Laboratory of medical genetics Shanghai Children's Hospital Shanghai Institute of Cell Biology Academia Sinica Shanghai Institute of Cell Biology Academia Sinica department of Cell Biology Baylor College of Medicine Houston Texas 77030 U.S.A. department of Cell Biology Baylor College of Medicine Houston Texas 77030 U.S.A.

Human phenylalanine hydroxylase (PAH) cDNA was applied as a hybridization probe to analyzing the following 8 restriction fragment length polymorphisms (RFLP) in the PAH genes of 80 normal and 28 phenylketonuric Chinese patients: BgⅢ, 3.6kb/1.7kb; EcoRI, 17kb/11kb; EcoRV, 30kb/25kb; HindⅢ, 4.2kb/4.0kb; MspIa, 23kb/19kb; MspIb, 4.0kb/2.2kb; PvuIIa, 19kb/6.0kb and PvuIIb, 11.5kb/9.1kb. The frequencies of the above RFLP in normal Chinese and PKU patients are: 0.13, 0.83, 0.77, 0.81, 0.12, 0.04, 0.70, 0.10 and 0.12, 0.93, 0.89, 0.81, 0.04, 0, 0.69, 0.04, respectively. This study reveals significant differences between the frequencies of individual RFLPs when these values are compared with those of the Caucasians. Finally, the detection of RFLPs in the PAH gene in the Chinese population will permit prenatal diagnosis of PKU in China.

关键词： phenylketonuria Chinese PAH gene polymorphism.

Strong association of SLCIA1 and DPF3 gene variants with idiopathic male infertility in Han Chinese

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Asian Journal of Andrology 2017年第4期19卷 486-492页

作者： Shu-Yuan Liu Chang-Jun Zhang Hai-Ying Peng Hao Sun Ke-Qin Lin Xiao-Qin Huang Kai Huang Jia-You Chu Zhao-Qing Yang department of medical genetics Institute of Medical Biology Chinese Academy of Medical Sciences and Peking Union Medical College Kunming 650118 China Reproductive medical Research Centre People's Hospital of Shiyan Shiyan 442000 China

Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. In recent years, several genome-wide single-nucleotide polymorphism （SNP） association studies （GWAS） have been performed on azoospermia and/or oligozoospermia in different populations including two GWAS on nonobstructive azoospermia in China; however, the association of SNPs with idiopathic male infertility, especially asthenozoospermia and oligozoospermia, and their correlation with semen parameters are still not clear. To investigate genetic variants associated with idiopathic male infertility （asthenozoospermia, oligozoospermia, and oligoasthenozoospermia） in Chinese Han people, 20 candidate SNPs were selected from GWAS results and genotyped using the Sequenom MassARRAY assay. A total of 136 subfertile men and 456 healthy fertile men were recruited, rs6476866 in SLCIA1 （P = 1.919E-4, OR = 0.5905, 95% Ch 0.447-0.78） and rs10129954 in DPF3 （P = 0.0023, OR = 2.199, 95% Ch 1.311-3.689） were strongly associated with idiopathic male infertility. In addition, positive associations were observed between asthenozoospermia and rs215702 in LSM5 （P= 0.0016, OR = 1.479, 95% CI： 1.075-2.033） and between oligoasthenozoospermia and rs2477686 in PEXIO （P= 0.0011, OR = 2.935, 95% Ch 1.492-5.775）. In addition, six SNPs （rs215702 in LSMS, rs6476866 in SLCIA1, rs10129954 in DPF3, rs1801133 in MTHFR, rs2477686 in PEXIO, and rs10841496 in PED3A） were significantly correlated with semen quality alterations. Our results suggest that idiopathic male infertility in different ethnic groups may share the same mechanism or pathway. Cohort expansion and further mechanistic studies on the role of genetic factors that influence spermatogenesis and sperm progressive motility are suggested.

关键词： candidate SNPs Han Chinese idiopathic male infertility semen quality

New insights shed light on the enigma of genetic diversity and species complexity

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Science China Life Sciences 2024年第12期67卷 2774-2776页

作者： Zuobin Zhu Conghui Han Shi Huang Xuzhou Engineering Research Center of medical genetics and Transformation Key Laboratory of Genetic Foundation and Clinical Application Xuzhou Medical University department of Urology Xuzhou Clinical School of Xuzhou Medical University Xuzhou Central Hospital Center for medical genetics School of Life Sciences Central South University

Genetic diversity remains poorly understood, but several recent Science papers may shed new light on this long-standing puzzle(Exposito-Alonso et al., 2022; Gao et al., 2023; Kuderna et al., 2023).Exposito-Alonso et al.(2022) demonstrated that a reduction in environmental diversity, including species habitat and living environment complexity, leads to a decrease in genetic diversity. Kuderna et al.

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Zfhx3 is essential for progesterone/progesterone receptor signaling to drive ductal side-branching and alveologenesis in mouse mammary glands

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Journal of genetics and Genomics 2019年第3期46卷 119-131页

作者： Gui Ma Ang Gao Yinan Yang Yuan He Xi Zhang Baotong Zhang Zhiqian Zhang Mei Li Xing Fu Dan Zhao Rui Wu Leilei Qi Qingxia Hu Juan Li Liya Fu Zhengmao Zhu Jin-Tang Dong department of genetics and Cell Biology College of Life Sciences Nankai University department of Hematology and medical Oncology School of Medicine Winship Cancer Institute Emory University Ningbo Institute of medical Sciences

Progesterone(Pg)/progesterone receptor(PR) signaling drives mammary gland side-branching and alveologenesis, but the mechanisms through which Pg/PR signaling functions remain to be *** in vitro and in vivo models and histological and molecular analyses, we determined the role of Zfhx3 transcription factor in mammary gland development driven by Pg/PR signaling. Postnatal deletion of Zfhx3 in mouse mammary epithelial cells attenuated side-branching morphogenesis and alveologenesis. These effects were undetectable in the absence of Pg/PR signaling. During the estrus cycle, Zfhx3 expression corresponded to that of Pg, being at the highest level at the diestrus stage; Zfhx3 deletion inhibited mammary gland branching more potently at diestrus than estrus stage. Loss of Zfhx3 not only attenuated the expansion of stem/progenitor cells driven by Pg/PR signaling, but also impaired the function of Pg/PR signaling in the transcriptional activation of multiple genes. In addition, Pg/PR signaling significantly expanded PR-and Zfhx3-positive epithelial cells, and induced the physical association of ZFHX3 with PR. These findings establish Zfhx3 as an integral transcription factor of Pg/PR signaling in driving side-branching and alveologenesis during mammary gland development.

关键词： Mammary gland Zfhx3/Atbf1 Pregnancy Ductal side-branching Alveologenesis Progesterone-progesterone receptor signaling

May the Force Be with You: Metabolism of Arginine and Pyrimidines

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Journal of genetics and Genomics 2015年第5期42卷 179-180页

作者： Ji-Long Liu medical Research Council Functional Genomics Unit Department of Physiology Anatomy and Genetics University of Oxford

＂Why do arginine and pyrimidines have to be considered together？＂ This was the question I asked when I was invited by Barbara Zimmermann to attend the 23rd Intemational Conference on Arginine and Pyrimidines （ICAP） three years ago. The meeting was held in the summer of 2012 at Bogota, Columbia, known as the ＂the Athens of South America＂. I am not alone in wanting to know more about the relationship between arginine and pyrimidines. Last summer, when ! was organising the next ICAP meeting at Oxford （Aughey et al., 2014）, one of my colleagues asked me, ＂Why such a weird name for a conference？＂ I am not sure if I had given her a satisfying answer and I was enthused to find out what the reasons may be.

关键词： ICAP Metabolism of Arginine and Pyrimidines May the Force Be with You CPS

Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome

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Genes & Diseases 2020年第4期7卷 614-619页

作者： Hamid Ghaedi Samira Molaei Ramsheh Maryam Erfanian Omidvar Afsaneh Labbaf Elham Alehabib Sanaz Akbari Fatemeh Pourfatemi Hossein Darvish department of medical genetics School of MedicineShahid Beheshti University of Medical SciencesTehranIran department of medical Laboratory Technology School of Allied Medical SciencesShahid Beheshti University of Medical SciencesTehranIran Student Research Committee Department of Medical GeneticsSchool of MedicineShahid Beheshti University of Medical SciencesTehranIran Nourdanesh Institute MeymehIsfahanIran Deputy for Prevention Affairs of State Welfare Organization of Mazandaran SariIran Cancer Research Center Semnan University of Medical SciencesSemnanIran department of medical genetics School of MedicineSemnan University of Medical SciencesSemnanIran

Hereditary nonpolyposis colorectal cancer or Lynch syndrome is autosomal dominant cancer predisposition syndrome characterized by early onset of colorectal cancer and neoplasia in other *** condition typically caused by germline mutations in the mismatch repair genes MLH1,MSH2,MSH6,and *** date,a considerable number of MLH1 gene mutations have been found to be associated with Lynch *** were aimed at identifying a genetic mutation in an extended Iranian family affected by Lynch syndromerelated ***,we applied whole-exome sequencing to identifying mutation in the ***,we applied Sanger sequencing to validate the candidate *** found a heterozygous novel single nucleotide deletion(c.206delG)in the exon two of the MLH1 gene in the ***,Sanger sequencing analysis showed that this mutation has segregated in all affected family *** mutation(c.206delG:p.R69fs)may create a premature stop codon followed by the formation of a truncated(p.R69fs)Mlh1 *** findings expand the mutational spectra of MLH1 gene related Lynch syndrome which is vital for screening and genetic diagnosis of the disease.

关键词： Colorectal cancer Lung cancer Mismatch repair MLH1

Insulin, longevity, and genetic analysis of metabolism

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Protein & Cell 2010年第7期1卷 605-606页

作者： Steven Y Cheng department of Developmental genetics center for Regenerative Medicine Nanjing Medical UniversityNanjing 210029China

In a 1989 Hollywood hit“Sex,Lies,and Videotapes”,director Steven Soderbergh told a story of an incestuous affair between a hot-shot lawyer and the sister of his married *** over-stayed visit by a drifter whose unusual fetish of videotaping conversations about sex lives of women deconvoluted this adulterous *** the biological life,persistent bias can also throw off a balance such as the homeostasis delicately constructed among metabolism,longevity,and the insulin signaling *** a recent paper published in Cell Metabolism,Yong Liu’s group at the Shanghai Institute of Nutritional Sciences and Liangyou Rui’s group at the University of Michigan medical School reported that alteration of metabolism through genetic deletion of SH2B,a gene encoding an adaptor protein required for insulin signaling,causes significant changes in the life span of affected fruitflies and *** the manmade and the god-made stories show only a slight superficial analogy in form,they both unfold through serendipitous analyses of seemingly unrelated events,a theme that reoccurringly underscores the importance of basic research.

关键词： metabolism analogy conversation