当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Abstract：

:Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders characterized by an almost exclusive degeneration of motor nerve fibers, predominantly in the distal part of the limbs. Silver syndrome (OMIM #270685) is a rare form of hereditary spastic paraparesis mapped to chromosome 11q12-q14 (SPG17) in which spasticity of the legs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. Silver syndrome and most forms of dHMN are autosomal dominantly inherited with incomplete penetrance and a broad variability in clinical expression. A genome-wide scan in an Austrian family with dHMN-V (ref. 4) showed linkage to the locus SPG17, which was confirmed in 16 additional families with a phenotype characteristic of dHMN or Silver syndrome. After refining the critical region to 1 Mb, we sequenced the gene Berardinelli-Seip congenital lipodystrophy (BSCL2) and identified two heterozygous missense mutations resulting in the amino acid substitutions N88S and S90L. Null mutations in BSCL2, which encodes the protein seipin, were previously shown to be associated with autosomal recessive Berardinelli-Seip congenital lipodystrophy (OMIM #269700). We show that seipin is an integral membrane protein of the endoplasmic reticulum (ER). The amino acid substitutions N88S and S90L affect glycosylation of seipin and result in aggregate formation leading to neurodegeneration.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Windpassinger C,Auer-Grumbach M,Irobi J,Patel H,Petek E,Hörl G,Malli R,Reed JA,Dierick I,Verpoorten N,Warner TT,Proukakis C,Van den Bergh P,Verellen C,Van Maldergem L,Merlini L,De Jonghe P,Timmerman V,Crosby AH,Wagn

doi

10.1038/ng1313

keywords:

subject

Has Abstract

pub_date

2004-03-01 00:00:00

pages

271-6

issue

3

eissn

1061-4036

issn

1546-1718

pii

ng1313

journal_volume

36

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.

    abstract：:We recently mapped the disease locus for severe autosomal recessive lamellar ichthyosis (LI) to chromosome 14q11 and showed complete linkage with TGM1, the gene encoding transglutaminase 1. We have now identified point mutations in TGM1 in two of the multiplex LI families used in the linkage study. Each nucleotide cha...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0395-279

    authors： Russell LJ,DiGiovanna JJ,Rogers GR,Steinert PM,Hashem N,Compton JG,Bale SJ

    更新日期：1995-03-01 00:00:00

  • Establishment of functional imprinting of the H19 gene in human developing placentae.

    abstract：:We have found that the imprinted H19 gene can be expressed either biallelically or monoallelically in the developing human placentae. H19 biallelic expression is confined to the placenta until 10 weeks of gestation, after which it becomes exclusively maternal, and does not affect allele-specificity or levels of IGF2 e...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0795-318

    authors： Jinno Y,Ikeda Y,Yun K,Maw M,Masuzaki H,Fukuda H,Inuzuka K,Fujishita A,Ohtani Y,Okimoto T

    更新日期：1995-07-01 00:00:00

  • The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.

    abstract：:Breast carcinoma is the most common malignancy among women in developed countries. Because family history remains the strongest single predictor of breast cancer risk, attention has focused on the role of highly penetrant, dominantly inherited genes in cancer-prone kindreds (1). BRCA1 was localized to chromosome 17 th...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0396-333

    authors： Tavtigian SV,Simard J,Rommens J,Couch F,Shattuck-Eidens D,Neuhausen S,Merajver S,Thorlacius S,Offit K,Stoppa-Lyonnet D,Belanger C,Bell R,Berry S,Bogden R,Chen Q,Davis T,Dumont M,Frye C,Hattier T,Jammulapati S,Jane

    更新日期：1996-03-01 00:00:00

  • Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.

    abstract：:Dentinogenesis imperfecta 1 (DGI1, MIM 125490) is an autosomal dominant dental disease characterized by abnormal dentin production and mineralization. The DGI1 locus was recently refined to a 2-Mb interval on 4q21 (ref. 1). Here we study three Chinese families carrying DGI1. We find that the affected individuals of tw...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/84848

    authors： Xiao S,Yu C,Chou X,Yuan W,Wang Y,Bu L,Fu G,Qian M,Yang J,Shi Y,Hu L,Han B,Wang Z,Huang W,Liu J,Chen Z,Zhao G,Kong X

    更新日期：2001-02-01 00:00:00

  • Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia.

    abstract：:The Ras signal transduction pathway is often deregulated in human myeloid leukaemia. For example, activating point mutations in RAS genes are found in some patients with juvenile chronic myelogenous leukaemia (JCML), while other patients with JCML show loss of the neurofibromatosis type 1 (NF1) gene, a Ras GTPase acti...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0296-137

    authors： Largaespada DA,Brannan CI,Jenkins NA,Copeland NG

    更新日期：1996-02-01 00:00:00

  • Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1.

    abstract：:The basic helix-loop-helix (bHLH) transcription factors, Hand1 and Hand2 (refs 1,2), also called eHand/Hxt/Thing1 and dHand/Hed/Thing2 (refs 3,4), respectively, are expressed in the heart and certain neural-crest derivatives during embryogenesis. In addition, Hand1 is expressed in extraembryonic membranes, whereas Han...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0398-266

    authors： Firulli AB,McFadden DG,Lin Q,Srivastava D,Olson EN

    更新日期：1998-03-01 00:00:00

  • Epigenetic asymmetry of imprinted genes in plant gametes.

    abstract：:Plant imprinted genes show parent-of-origin expression in seed endosperm, but little is known about the nature of parental imprints in gametes before fertilization. We show here that single differentially methylated regions (DMRs) correlate with allele-specific expression of two maternally expressed genes in the seed ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1828

    authors： Gutiérrez-Marcos JF,Costa LM,Dal Prà M,Scholten S,Kranz E,Perez P,Dickinson HG

    更新日期：2006-08-01 00:00:00

  • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

    abstract：:Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects, developmental delay, schizophrenia and related psychoses. We describe 21 probands with the 1q21.1 microdeletion and 15 proba...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.279

    authors： Brunetti-Pierri N,Berg JS,Scaglia F,Belmont J,Bacino CA,Sahoo T,Lalani SR,Graham B,Lee B,Shinawi M,Shen J,Kang SH,Pursley A,Lotze T,Kennedy G,Lansky-Shafer S,Weaver C,Roeder ER,Grebe TA,Arnold GL,Hutchison T,Rei

    更新日期：2008-12-01 00:00:00

  • Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility.

    abstract：:Follicle stimulating hormone (FSH) is a member of the glycoprotein hormone family that includes luteinzing hormone (LH), thyroid stimulating hormone, and chorionic gonadotropin. These heterodimeric hormones share a common alpha subunit and differ in their hormone-specific beta subunit. The biological activity is confe...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0297-201

    authors： Kumar TR,Wang Y,Lu N,Matzuk MM

    更新日期：1997-02-01 00:00:00

  • A component of the transcriptional repressor MeCP1 shares a motif with DNA methyltransferase and HRX proteins.

    abstract：:Methylation of cytosines within the sequence CpG is essential for mouse development and has been linked to transcriptional suppression in vertebrate systems. Methyl-CpG binding proteins (MeCPs) 1 and 2 bind preferentially to methylated DNA and can inhibit transcription. The gene for MeCP2 has been cloned and a methyl-...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0797-256

    authors： Cross SH,Meehan RR,Nan X,Bird A

    更新日期：1997-07-01 00:00:00

  • Correlation between transcriptome and interactome mapping data from Saccharomyces cerevisiae.

    abstract：:Genomic and proteomic approaches can provide hypotheses concerning function for the large number of genes predicted from genome sequences. Because of the artificial nature of the assays, however, the information from these high-throughput approaches should be considered with caution. Although it is possible that more ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng776

    authors： Ge H,Liu Z,Church GM,Vidal M

    更新日期：2001-12-01 00:00:00

  • Identification and characterization of rod-derived cone viability factor.

    abstract：:Retinitis pigmentosa is an untreatable, inherited retinal disease that leads to blindness. The disease initiates with the loss of night vision due to rod photoreceptor degeneration, followed by irreversible, progressive loss of cone photoreceptor. Cone loss is responsible for the main visual handicap, as cones are ess...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1386

    authors： Léveillard T,Mohand-Saïd S,Lorentz O,Hicks D,Fintz AC,Clérin E,Simonutti M,Forster V,Cavusoglu N,Chalmel F,Dollé P,Poch O,Lambrou G,Sahel JA

    更新日期：2004-07-01 00:00:00

  • Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis.

    abstract：:Gene-environment associations are important in rheumatoid arthritis (RA) susceptibility, with an association existing between smoking, HLA- DRB1 'shared epitope' alleles, PTPN22 and antibodies to cyclic citrullinated peptides (CCP). Here, we test the hypothesis that a subset of the anti-CCP response, with specific aut...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.480

    authors： Mahdi H,Fisher BA,Källberg H,Plant D,Malmström V,Rönnelid J,Charles P,Ding B,Alfredsson L,Padyukov L,Symmons DP,Venables PJ,Klareskog L,Lundberg K

    更新日期：2009-12-01 00:00:00

  • Finding host targets for HIV therapy.

    abstract：:A CRISPR screen conducted in a CD4+ T cell leukemia line has identified host factors required for HIV infection but dispensable for cellular survival. The results highlight sulfation on the HIV co-receptor CCR5 and cellular aggregation as potential targets for therapeutic intervention. ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3777

    authors： Tsui CK,Gupta A,Bassik MC

    更新日期：2017-01-31 00:00:00

  • Microarray databases: standards and ontologies.

    abstract：:A single microarray can provide information on the expression of tens of thousands of genes. The amount of information generated by a microarray-based experiment is sufficiently large that no single study can be expected to mine each nugget of scientific information. As a consequence, the scale and complexity of micro...

    journal_title：Nature genetics

    pub_type： 杂志文章,评审

    doi：10.1038/ng1028

    authors： Stoeckert CJ Jr,Causton HC,Ball CA

    更新日期：2002-12-01 00:00:00

  • Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs.

    abstract：:Schizophrenia is a complex disorder caused by both genetic and environmental factors. Using 9,087 affected individuals, 12,171 controls and 915,354 imputed SNPs from the Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (PGC-SCZ), we estimate that 23% (s.e. = 1%) of variation in liability to sc...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.1108

    authors： Lee SH,DeCandia TR,Ripke S,Yang J,Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ).,International Schizophrenia Consortium (ISC).,Molecular Genetics of Schizophrenia Collaboration (MGS).,Sullivan PF,Goddard ME

    更新日期：2012-02-19 00:00:00

  • Identification of erythroferrone as an erythroid regulator of iron metabolism.

    abstract：:Recovery from blood loss requires a greatly enhanced supply of iron to support expanded erythropoiesis. After hemorrhage, suppression of the iron-regulatory hormone hepcidin allows increased iron absorption and mobilization from stores. We identified a new hormone, erythroferrone (ERFE), that mediates hepcidin suppres...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2996

    authors： Kautz L,Jung G,Valore EV,Rivella S,Nemeth E,Ganz T

    更新日期：2014-07-01 00:00:00

  • Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

    abstract：:Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ∼ 2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 ad...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.686

    authors： Speliotes EK,Willer CJ,Berndt SI,Monda KL,Thorleifsson G,Jackson AU,Lango Allen H,Lindgren CM,Luan J,Mägi R,Randall JC,Vedantam S,Winkler TW,Qi L,Workalemahu T,Heid IM,Steinthorsdottir V,Stringham HM,Weedon MN,Wheel

    更新日期：2010-11-01 00:00:00

  • Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

    abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    journal_title：Nature genetics

    pub_type： 已发布勘误

    doi：10.1038/s41588-019-0449-0

    authors： Malik R,Chauhan G,Traylor M,Sargurupremraj M,Okada Y,Mishra A,Rutten-Jacobs L,Giese AK,van der Laan SW,Gretarsdottir S,Anderson CD,Chong M,Adams HHH,Ago T,Almgren P,Amouyel P,Ay H,Bartz TM,Benavente OR,Bevan S,Bon

    更新日期：2019-07-01 00:00:00

  • Transcriptome analysis of the acoelomate human parasite Schistosoma mansoni.

    abstract：:Schistosoma mansoni is the primary causative agent of schistosomiasis, which affects 200 million individuals in 74 countries. We generated 163,000 expressed-sequence tags (ESTs) from normalized cDNA libraries from six selected developmental stages of the parasite, resulting in 31,000 assembled sequences and 92% sampli...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1237

    authors： Verjovski-Almeida S,DeMarco R,Martins EA,Guimarães PE,Ojopi EP,Paquola AC,Piazza JP,Nishiyama MY Jr,Kitajima JP,Adamson RE,Ashton PD,Bonaldo MF,Coulson PS,Dillon GP,Farias LP,Gregorio SP,Ho PL,Leite RA,Malaquias LC,

    更新日期：2003-10-01 00:00:00

  • Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.

    abstract：:Sequence variants affecting blood lipids and coronary artery disease (CAD) may enhance understanding of the atherogenicity of lipid fractions. Using a large resource of whole-genome sequence data, we examined rare and low-frequency variants for association with non-HDL cholesterol, HDL cholesterol, LDL cholesterol, an...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3561

    authors： Helgadottir A,Gretarsdottir S,Thorleifsson G,Hjartarson E,Sigurdsson A,Magnusdottir A,Jonasdottir A,Kristjansson H,Sulem P,Oddsson A,Sveinbjornsson G,Steinthorsdottir V,Rafnar T,Masson G,Jonsdottir I,Olafsson I,Eyjolfsson

    更新日期：2016-06-01 00:00:00

  • Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

    abstract：:Endometrial cancer is the most common malignancy of the female genital tract in developed countries. To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with endometrial cancer (cases) from Australia and the UK and 5,190 control...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.812

    authors： Spurdle AB,Thompson DJ,Ahmed S,Ferguson K,Healey CS,O'Mara T,Walker LC,Montgomery SB,Dermitzakis ET,Australian National Endometrial Cancer Study Group.,Fahey P,Montgomery GW,Webb PM,Fasching PA,Beckmann MW,Ekici AB,Hein A

    更新日期：2011-05-01 00:00:00

  • Author Correction: PGBD5 promotes site-specific oncogenic mutations in human tumors.

    abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    journal_title：Nature genetics

    pub_type： 已发布勘误

    doi：10.1038/s41588-020-00711-z

    authors： Henssen AG,Koche R,Zhuang J,Jiang E,Reed C,Eisenberg A,Still E,MacArthur IC,Rodríguez-Fos E,Gonzalez S,Puiggròs M,Blackford AN,Mason CE,de Stanchina E,Gönen M,Emde AK,Shah M,Arora K,Reeves C,Socci ND,Perlman E,A

    更新日期：2020-11-01 00:00:00

  • Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response.

    abstract：:Regulatory variants are often context specific, modulating gene expression in a subset of possible cellular states. Although these genetic effects can play important roles in disease, the molecular mechanisms underlying context specificity are poorly understood. Here, we identified shared quantitative trait loci (QTLs...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0046-7

    authors： Alasoo K,Rodrigues J,Mukhopadhyay S,Knights AJ,Mann AL,Kundu K,HIPSCI Consortium.,Hale C,Dougan G,Gaffney DJ

    更新日期：2018-03-01 00:00:00

  • ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

    abstract：:Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of diseases associated with abnormal post-translational processing of a-dystroglycan that share a defect i...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2252

    authors： Willer T,Lee H,Lommel M,Yoshida-Moriguchi T,de Bernabe DB,Venzke D,Cirak S,Schachter H,Vajsar J,Voit T,Muntoni F,Loder AS,Dobyns WB,Winder TL,Strahl S,Mathews KD,Nelson SF,Moore SA,Campbell KP

    更新日期：2012-05-01 00:00:00

  • Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.

    abstract：:The tissue-specific organization of collagen molecules into tridimensional macroaggregates determines the physiomechanical properties of most connective tissues, but the factors and mechanisms controlling this process are unknown. It has been postulated that quantitatively minor types V and XI collagen regulate the gr...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0195-31

    authors： Andrikopoulos K,Liu X,Keene DR,Jaenisch R,Ramirez F

    更新日期：1995-01-01 00:00:00

  • A literature network of human genes for high-throughput analysis of gene expression.

    abstract：:We have carried out automated extraction of explicit and implicit biomedical knowledge from publicly available gene and text databases to create a gene-to-gene co-citation network for 13,712 named human genes by automated analysis of titles and abstracts in over 10 million MEDLINE records. The associations between gen...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0501-21

    authors： Jenssen TK,Laegreid A,Komorowski J,Hovig E

    更新日期：2001-05-01 00:00:00

  • Human homologs of a Drosophila Enhancer of split gene product define a novel family of nuclear proteins.

    abstract：:Notch and the m9/10 gene (groucho) of the Enhancer of split (E(spI)) complex are members of the "Notch group" of genes, which is required for a variety of cell fate choices in Drosophila. We have characterized human cDNA clones encoding a family of proteins, designated TLE, that are homologous to the E(spI) m9/10 gene...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1092-119

    authors： Stifani S,Blaumueller CM,Redhead NJ,Hill RE,Artavanis-Tsakonas S

    更新日期：1992-10-01 00:00:00

  • Author Correction: Reference component analysis of single-cell transcriptomes elucidates cellular heterogeneity in human colorectal tumors.

    abstract：:In the version of the article published, the author list is not accurate. Igor Cima and Min-Han Tan should have been authors, appearing after Mark Wong in the author list, while Paul Jongjoon Choi should not have been listed as an author. Igor Cima and Min-Han Tan both have the affiliation Institute of Bioengineering ...

    journal_title：Nature genetics

    pub_type： 杂志文章,已发布勘误

    doi：10.1038/s41588-018-0299-1

    authors： Li H,Courtois ET,Sengupta D,Tan Y,Chen KH,Goh JJL,Kong SL,Chua C,Hon LK,Tan WS,Wong M,Cima I,Tan MH,Wee LJK,Hillmer AM,Tan IB,Robson P,Prabhakar S

    更新日期：2018-12-01 00:00:00

  • A role for the bacterial GATC methylome in antibiotic stress survival.

    abstract：:Antibiotic resistance is an increasingly serious public health threat. Understanding pathways allowing bacteria to survive antibiotic stress may unveil new therapeutic targets. We explore the role of the bacterial epigenome in antibiotic stress survival using classical genetic tools and single-molecule real-time seque...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3530

    authors： Cohen NR,Ross CA,Jain S,Shapiro RS,Gutierrez A,Belenky P,Li H,Collins JJ

    更新日期：2016-05-01 00:00:00