当前位置： SCI文献检索 > HUMAN MOLECULAR GENETICS期刊下所有文献 > Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.

Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.

Abstract：

:Xeroderma pigmentosum (XP) complementation group F was first reported in Japan and most XP-F patients reported to date are Japanese. The clinical features of XP-F patients are rather mild, including late onset of skin cancer. Recently a cDNA that corrects the repair deficiency of cultured XP-F cells was isolated. The XPF protein forms a tight complex with ERCC1 and this complex functions as a structure-specific endonuclease responsible for the 5' incision during DNA excision repair. Here we have identified XPF mRNA mutations and examined levels of the mRNA and protein expression in seven primary cell strains from Japanese XP-F patients. The XP-F cell strains were classified into three types in terms of the effect of the mutation on the predicted protein; (i) XPF proteins with amino acid substitutions; (ii) amino acid substituted and truncated XPF proteins; and (iii) truncated XPF protein only. A normal level of expression of XPF mRNA was observed in XP-F cells but XPF protein was extremely low. These results indicate that the detected mutations lead to unstable XPF protein, resulting in a decrease in formation of the ERCC1-XPF endonuclease complex. Slow excision repair of UV-induced DNA damage due to low residual endonuclease activity provides a plausible explanation for the typical mild phenotype of XP-F patients.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Matsumura Y,Nishigori C,Yagi T,Imamura S,Takebe H

doi

10.1093/hmg/7.6.969

subject

Has Abstract

pub_date

1998-06-01 00:00:00

pages

969-74

issue

6

eissn

0964-6906

issn

1460-2083

pii

ddb123

journal_volume

7

pub_type

杂志文章

相关文献

HUMAN MOLECULAR GENETICS文献大全
  • A YAC clone map spanning 7.5 megabases of human chromosome band Xq28.

    abstract：:Xq28 has been of special interest in human genetics because a large number of diseases map to this region. As a step in the molecular analysis of the as yet uncloned disease genes, and as a test for the detailed analysis of larger regions of the genome, we have constructed YAC clone contigs covering the 7.5 Mb region ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/3.12.2137

    authors： Rogner UC,Kioschis P,Wilke K,Gong W,Pick E,Dietrich A,Zechner U,Hameister H,Pragliola A,Herman GE

    更新日期：1994-12-01 00:00:00

  • Expression profiling in exercised mdx suggests a role for extracellular proteins in the dystrophic muscle immune response.

    abstract：:Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disorder caused by mutations in the DMD gene that leads to the absence or severe reduction of dystrophin protein in muscle. The mdx mouse, also dystrophin deficient, is the model most widely used to study the pathology and test potential therapies, but the p...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddz266

    authors： Coles CA,Gordon L,Hunt LC,Webster T,Piers AT,Kintakas C,Woodman K,Touslon SL,Smythe GM,White JD,Lamandé SR

    更新日期：2020-02-01 00:00:00

  • Multiple layers of molecular controls modulate self-renewal and neuronal lineage specification of embryonic stem cells.

    abstract：:Elucidating the molecular changes that arise during neural differentiation and fate specification is crucial for building accurate in vitro models of neurodegenerative diseases using human embryonic stem cells (hESCs). Here we review the importance of hESCs and derived progenitors in treating and modeling neurological...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/ddn065

    authors： Yeo GW,Coufal N,Aigner S,Winner B,Scolnick JA,Marchetto MC,Muotri AR,Carson C,Gage FH

    更新日期：2008-04-15 00:00:00

  • Characterization of FMR1 proteins isolated from different tissues.

    abstract：:FMR1 protein expression was studied in different tissues. In human, monkey and murine tissues, high molecular mass FMR1 proteins (67-80 kDa) are found, as shown in lymphoblastoid cells lines. The identity of these proteins was confirmed by their absence in tissues from patients with the fragile X syndrome and a FMR1 k...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/4.5.895

    authors： Verheij C,de Graaff E,Bakker CE,Willemsen R,Willems PJ,Meijer N,Galjaard H,Reuser AJ,Oostra BA,Hoogeveen AT

    更新日期：1995-05-01 00:00:00

  • A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia.

    abstract：:The apolipoprotein A5 gene (APOA5 ) has been shown to play an important role in determining plasma triglyceride concentrations in humans. We describe here a novel variant, c.553G>T, in the apolipoprotein A5 gene that is associated with hypertriglyceridemia. In contrast to some other polymorphisms, which occur in non-c...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddg255

    authors： Kao JT,Wen HC,Chien KL,Hsu HC,Lin SW

    更新日期：2003-10-01 00:00:00

  • Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk.

    abstract：:Family history of endometrial cancer increases the risk of developing the disease, but it is still largely unknown which germ-line genetic factors are involved in the aetiology of endometrial cancer. In a Swedish population-based case-control study including 705 cases and 1565 controls, we examined common variation in...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl451

    authors： Einarsdóttir K,Humphreys K,Bonnard C,Li Y,Li Y,Chia KS,Liu ET,Hall P,Liu J,Wedrén S

    更新日期：2007-01-15 00:00:00

  • Gene therapy of muscular dystrophy.

    abstract：:Development of gene therapy for the muscular dystrophies represents a daunting challenge requiring significant advances in our knowledge of the defective genes, muscle promoters, viral vectors, immune system surveillance and methods for systemic delivery of vectors. However, tremendous progress has been made in develo...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/11.20.2355

    authors： Chamberlain JS

    更新日期：2002-10-01 00:00:00

  • A tandem repeat array in IG-DMR is essential for imprinting of paternal allele at the Dlk1-Dio3 domain during embryonic development.

    abstract：:Genomic imprinting is a phenomenon that causes parent-origin-specific monoallelic expression of a small subset of genes, known as imprinted genes, by parentally inherited epigenetic marks. Imprinted genes at the delta-like homolog 1 gene (Dlk1)-type III iodothyronine deiodinase gene (Dio3) imprinted domain, regulated ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddy235

    authors： Saito T,Hara S,Kato T,Tamano M,Muramatsu A,Asahara H,Takada S

    更新日期：2018-09-15 00:00:00

  • A role for Brca1 in chromosome end maintenance.

    abstract：:The role of BRCA1 in breast and ovarian tumor suppression has been primarily ascribed to the maintenance of genome integrity. BRCA1 interacts with components of the non-homologous end-joining pathway previously shown to play a role in telomere maintenance in yeast. Here, we provide evidence that links Brca1 with telom...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl002

    authors： McPherson JP,Hande MP,Poonepalli A,Lemmers B,Zablocki E,Migon E,Shehabeldin A,Porras A,Karaskova J,Vukovic B,Squire J,Hakem R

    更新日期：2006-03-15 00:00:00

  • Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.

    abstract：:Saposin B derives from the multi-functional precursor, prosaposin, and functions as an activity enhancer for several glycosphingolipid (GSL) hydrolases. Mutations in saposin B present in humans with phenotypes resembling metachromatic leukodystrophy. To gain insight into saposin B's physiological functions, a specific...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddn135

    authors： Sun Y,Witte DP,Ran H,Zamzow M,Barnes S,Cheng H,Han X,Williams MT,Skelton MR,Vorhees CV,Grabowski GA

    更新日期：2008-08-01 00:00:00

  • Adeno-associated viral vectors for the treatment of hemophilia.

    abstract：:Gene transfer studies for the treatment of hemophilia began more than two decades ago. A large body of pre-clinical work evaluated a variety of vectors and target tissues, but by the start of the new millennium it became evident that adeno-associated viral (AAV)-mediated gene transfer to the liver held great promise a...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/ddv475

    authors： High KA,Anguela XM

    更新日期：2016-04-15 00:00:00

  • Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.

    abstract：:A recurrent t(9;22) (q22;q12) chromosome translocation has been described in extraskeletal myxoid chondrosarcoma (EMC). Fluorescent in situ hybridization experiments performed on one EMC tumour indicated that the chromosome 22 breakpoint occurred in the EWS gene. Northern blot analysis revealed an aberrant EWS transcr...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/4.12.2219

    authors： Labelle Y,Zucman J,Stenman G,Kindblom LG,Knight J,Turc-Carel C,Dockhorn-Dworniczak B,Mandahl N,Desmaze C,Peter M

    更新日期：1995-12-01 00:00:00

  • The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's disease.

    abstract：:Although the varepsilon4 allele of the apolipoprotein E gene appears as an important biological marker for Alzheimer's disease (AD) susceptibility, other genetic determinants are clearly implicated in the AD process. Here, we propose that a genetic variation in the transcriptional factor LBP-1c/CP2/LSF gene, located c...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1093/oxfordjournals.hmg.a018918

    authors： Lambert JC,Goumidi L,Vrièze FW,Frigard B,Harris JM,Cummings A,Coates J,Pasquier F,Cottel D,Gaillac M,St Clair D,Mann DM,Hardy J,Lendon CL,Amouyel P,Chartier-Harlin MC

    更新日期：2000-09-22 00:00:00

  • Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies.

    abstract：:Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are among the most common motor neuron diseases to afflict the human population. A deficiency of the survival of motor neuron (SMN) protein causes SMA and is also reported to be an exacerbating factor in the development of ALS. However, pathways lin...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/dds174

    authors： Kariya S,Re DB,Jacquier A,Nelson K,Przedborski S,Monani UR

    更新日期：2012-08-01 00:00:00

  • Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy.

    abstract：:Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality. SMA is caused by loss of functional survival motor neuron 1 (SMN1), resulting in death of spinal motor neurons. Current therapeutic research focuses on modulating the expression of a partially functioning copy gene, SMN2, which is reta...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddn426

    authors： Rose FF Jr,Mattis VB,Rindt H,Lorson CL

    更新日期：2009-03-15 00:00:00

  • Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity.

    abstract：:Myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy, is caused by an expanded (CTG)n repeat in the 3' untranslated region of the DM protein kinase (DMPK) gene. The toxic RNA transcripts produced from the mutant allele alter the function of RNA-binding proteins leading to the functio...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt419

    authors： Kim YK,Mandal M,Yadava RS,Paillard L,Mahadevan MS

    更新日期：2014-01-15 00:00:00

  • MAP2K3 is associated with body mass index in American Indians and Caucasians and may mediate hypothalamic inflammation.

    abstract：:To identify genes that affect body mass index (BMI) in American Indians who are predominately of Pima Indian heritage, we previously completed a genome-wide association study in 1120 American Indians. That study also included follow-up genotyping for 9 SNPs in 2133 additional subjects. A comprehensive follow-up study ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt291

    authors： Bian L,Traurig M,Hanson RL,Marinelarena A,Kobes S,Muller YL,Malhotra A,Huang K,Perez J,Gale A,Knowler WC,Bogardus C,Baier LJ

    更新日期：2013-11-01 00:00:00

  • Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

    abstract：:Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA,...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddv286

    authors： Heidari A,Tongsook C,Najafipour R,Musante L,Vasli N,Garshasbi M,Hu H,Mittal K,McNaughton AJ,Sritharan K,Hudson M,Stehr H,Talebi S,Moradi M,Darvish H,Arshad Rafiq M,Mozhdehipanah H,Rashidinejad A,Samiei S,Ghadami M,

    更新日期：2015-10-15 00:00:00

  • Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.

    abstract：:Deficiency of thymidine kinase 2 (TK2) is a frequent cause of isolated myopathy or encephalomyopathy in children with mitochondrial DNA (mtDNA) depletion. To determine the bases of disease onset, organ specificity and severity of TK2 deficiency, we have carefully characterized Tk2 H126N knockin mice (Tk2-/-). Although...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddq453

    authors： Dorado B,Area E,Akman HO,Hirano M

    更新日期：2011-01-01 00:00:00

  • Transduction of wild-type merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosis.

    abstract：:Mutations in both alleles of the tumour suppressor gene coding for merlin/schwannomin, an ERM family protein, cause the hereditary disease neurofibromatosis type 2 (NF2). NF2 is characterized by the development of multiple nervous system tumours especially vestibular schwannomas. Efficient oncoretrovirus-mediated gene...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/11.1.69

    authors： Schulze KM,Hanemann CO,Müller HW,Hanenberg H

    更新日期：2002-01-01 00:00:00

  • Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.

    abstract：:Mucopolysaccharidosis IVA (MPS IVA; OMIM#253000), a lysosomal storage disorder caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase (GALNS), has variable clinical phenotypes. To date we have identified 65 missense mutations in the GALNS gene from MPS IVA patients, but the correlation between genotype a...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/9.9.1283

    authors： Sukegawa K,Nakamura H,Kato Z,Tomatsu S,Montaño AM,Fukao T,Toietta G,Tortora P,Orii T,Kondo N

    更新日期：2000-05-22 00:00:00

  • The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract.

    abstract：:Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease caused by the expansion of a polyglutamine tract within the SCA1 product, ataxin-1. Previously, using transgenic mice, it was demonstrated that in order for a mutant allele of ataxin-1 to cause disease it must be transported to the...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/10.1.25

    authors： Yue S,Serra HG,Zoghbi HY,Orr HT

    更新日期：2001-01-01 00:00:00

  • FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.

    abstract：:The recently described DNA replication-based mechanisms of fork stalling and template switching (FoSTeS) and microhomology-mediated break-induced replication (MMBIR) were previously shown to catalyze complex exonic, genic and genomic rearrangements. By analyzing a large number of isochromosomes of the long arm of chro...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr074

    authors： Koumbaris G,Hatzisevastou-Loukidou H,Alexandrou A,Ioannides M,Christodoulou C,Fitzgerald T,Rajan D,Clayton S,Kitsiou-Tzeli S,Vermeesch JR,Skordis N,Antoniou P,Kurg A,Georgiou I,Carter NP,Patsalis PC

    更新日期：2011-05-15 00:00:00

  • Haplotype-specific linkage disequilibrium patterns define the genetic topography of the human MHC.

    abstract：:Detailed knowledge of linkage disequilibrium (LD) is regarded as a prerequisite for population-based disease gene mapping. Variable patterns across the human genome are now recognized, both between regions and populations. Here, we demonstrate that LD may also vary within a genomic region in a haplotype-specific manne...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：

    authors： Ahmad T,Neville M,Marshall SE,Armuzzi A,Mulcahy-Hawes K,Crawshaw J,Sato H,Ling KL,Barnardo M,Goldthorpe S,Walton R,Bunce M,Jewell DP,Welsh KI

    更新日期：2003-03-15 00:00:00

  • Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

    abstract：:The gene responsible for cystic fibrosis (CF) contains 27 coding exons and more than 300 independent mutations have been identified. An efficient and optimized strategy is required to identify additional mutations and/or to screen patient samples for the presence of known mutations. We have tested several different co...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/3.5.801

    authors： Ravnik-Glavac M,Glavac D,Dean M

    更新日期：1994-05-01 00:00:00

  • Bcl2-L-10, a novel anti-apoptotic member of the Bcl-2 family, blocks apoptosis in the mitochondria death pathway but not in the death receptor pathway.

    abstract：:By GenBank database searches and PCR, we have identified a novel human Bcl2-like gene, Bcl2-L-10, which contains conserved BH4, BH1 and BH2 domains but lacks BH3 domain. The Bcl2-L-10 gene has been assigned to chromosome 15q21.2. Transfection experiments demonstrated that Bcl2-L-10 can block apoptosis induced by inter...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/10.21.2329

    authors： Zhang H,Holzgreve W,De Geyter C

    更新日期：2001-10-01 00:00:00

  • Systematic analysis of the gerontome reveals links between aging and age-related diseases.

    abstract：:In model organisms, over 2,000 genes have been shown to modulate aging, the collection of which we call the ‘gerontome’. Although some individual aging-related genes have been the subject of intense scrutiny, their analysis as a whole has been limited. In particular, the genetic interaction of aging and age-related pa...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddw307

    authors： Fernandes M,Wan C,Tacutu R,Barardo D,Rajput A,Wang J,Thoppil H,Thornton D,Yang C,Freitas A,de Magalhães JP

    更新日期：2016-11-01 00:00:00

  • Impaired mitochondrial biogenesis, defective axonal transport of mitochondria, abnormal mitochondrial dynamics and synaptic degeneration in a mouse model of Alzheimer's disease.

    abstract：:Increasing evidence suggests that the accumulation of amyloid beta (Aβ) in synapses and synaptic mitochondria causes synaptic mitochondrial failure and synaptic degeneration in Alzheimer's disease (AD). The purpose of this study was to better understand the effects of Aβ in mitochondrial activity and synaptic alterati...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr381

    authors： Calkins MJ,Manczak M,Mao P,Shirendeb U,Reddy PH

    更新日期：2011-12-01 00:00:00

  • A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.

    abstract：:A new gene, designated Smcx, was cloned from the mouse X chromosome by its homology to the Y located gene Smcy. Using direct in situ hybridisation Smcx was mapped to the distal end of the mouse X chromosome (XF2-XF4) and its human homologue, SMCX, was mapped to proximal Xp (Xp11.1-Xp11.2). Further meiotic mapping in t...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/3.6.879

    authors： Agulnik AI,Mitchell MJ,Mattei MG,Borsani G,Avner PA,Lerner JL,Bishop CE

    更新日期：1994-06-01 00:00:00

  • FGFR2 regulates Mre11 expression and double-strand break repair via the MEK-ERK-POU1F1 pathway in breast tumorigenesis.

    abstract：:The association between breast cancer risk and genetic variants of fibroblast growth factor receptor 2 (FGFR2) has been identified and repeatedly confirmed; however, the mechanism underlying FGFR2 in breast tumorigenesis remains obscure. Given that breast tumorigenesis is particularly related to DNA double-strand-brea...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddv102

    authors： Huang YL,Chou WC,Hsiung CN,Hu LY,Chu HW,Shen CY

    更新日期：2015-06-15 00:00:00