当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

Abstract：

:Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities. Most patients die in childhood. The CHS hallmark is the occurrence of giant inclusion bodies and organelles in a variety of cell types, and protein sorting defects into these organelles. Similar abnormalities occur in the beige mouse, the proposed model for human CHS. Two groups have recently reported the identification of the beige gene, however the two cDNAs were not at all similar. Here we describe the sequence of a human cDNA homologous to mouse beige, identify pathologic mutations and clarify the discrepancies of the previous reports. Analysis of the CHS polypeptide demonstrates that its modular architecture is similar to the yeast vacuolar sorting protein, VPS15.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Nagle DL,Karim MA,Woolf EA,Holmgren L,Bork P,Misumi DJ,McGrail SH,Dussault BJ Jr,Perou CM,Boissy RE,Duyk GM,Spritz RA,Moore KJ

doi

10.1038/ng1196-307

subject

Has Abstract

pub_date

1996-11-01 00:00:00

pages

307-11

issue

3

eissn

1061-4036

issn

1546-1718

journal_volume

14

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

    abstract：:The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1775

    authors： Toydemir RM,Rutherford A,Whitby FG,Jorde LB,Carey JC,Bamshad MJ

    更新日期：2006-05-01 00:00:00

  • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

    abstract：:We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication show...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1718

    authors： Rovelet-Lecrux A,Hannequin D,Raux G,Le Meur N,Laquerrière A,Vital A,Dumanchin C,Feuillette S,Brice A,Vercelletto M,Dubas F,Frebourg T,Campion D

    更新日期：2006-01-01 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

  • Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.

    abstract：:Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele caus...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1226

    authors： Noben-Trauth K,Zheng QY,Johnson KR

    更新日期：2003-09-01 00:00:00

  • Newly identified genetic risk variants for celiac disease related to the immune response.

    abstract：:Our genome-wide association study of celiac disease previously identified risk variants in the IL2-IL21 region. To identify additional risk variants, we genotyped 1,020 of the most strongly associated non-HLA markers in an additional 1,643 cases and 3,406 controls. Through joint analysis including the genome-wide asso...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.102

    authors： Hunt KA,Zhernakova A,Turner G,Heap GA,Franke L,Bruinenberg M,Romanos J,Dinesen LC,Ryan AW,Panesar D,Gwilliam R,Takeuchi F,McLaren WM,Holmes GK,Howdle PD,Walters JR,Sanders DS,Playford RJ,Trynka G,Mulder CJ,Mearin

    更新日期：2008-04-01 00:00:00

  • The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.

    abstract：:Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect is the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the per...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0692-171

    authors： Timmerman V,Nelis E,Van Hul W,Nieuwenhuijsen BW,Chen KL,Wang S,Ben Othman K,Cullen B,Leach RJ,Hanemann CO

    更新日期：1992-06-01 00:00:00

  • Polygenic control of autoimmune diabetes in nonobese diabetic mice.

    abstract：:Partial exclusion mapping of the nonobese (NOD) diabetic mouse genome has shown linkage of diabetes to at least five different chromosomes. We have now excluded almost all of the genome for the presence of susceptibility genes with fully recessive effects and have obtained evidence of linkage of ten distinct loci to d...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0893-404

    authors： Ghosh S,Palmer SM,Rodrigues NR,Cordell HJ,Hearne CM,Cornall RJ,Prins JB,McShane P,Lathrop GM,Peterson LB

    更新日期：1993-08-01 00:00:00

  • Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning.

    abstract：:1 alpha,25-Dihydroxyvitamin D3[1 alpha,25(OH)2D3], an active form of vitamin D, has roles in many biological phenomena such as calcium homeostasis and bone formation, which are thought to be mediated by the 1 alpha,25(OH)2D3 receptor (VDR), a member of the nuclear hormone receptor superfamily. However, the molecular b...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0897-391

    authors： Yoshizawa T,Handa Y,Uematsu Y,Takeda S,Sekine K,Yoshihara Y,Kawakami T,Arioka K,Sato H,Uchiyama Y,Masushige S,Fukamizu A,Matsumoto T,Kato S

    更新日期：1997-08-01 00:00:00

  • Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.

    abstract：:Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency ≤ 0.01) variant BP associations (P < 5 × 10-8), of which 32...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/s41588-020-00713-x

    authors： Surendran P,Feofanova EV,Lahrouchi N,Ntalla I,Karthikeyan S,Cook J,Chen L,Mifsud B,Yao C,Kraja AT,Cartwright JH,Hellwege JN,Giri A,Tragante V,Thorleifsson G,Liu DJ,Prins BP,Stewart ID,Cabrera CP,Eales JM,Akbarov A

    更新日期：2020-12-01 00:00:00

  • DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.

    abstract：:The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of chromosome 22q11. The genetic basis for the wide range of developmental anomalies in the heart, glands and facial structures has been elusive. We have investigated the potential role of one can...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/85845

    authors： Jerome LA,Papaioannou VE

    更新日期：2001-03-01 00:00:00

  • Substitutions in woolly mammoth hemoglobin confer biochemical properties adaptive for cold tolerance.

    abstract：:We have genetically retrieved, resurrected and performed detailed structure-function analyses on authentic woolly mammoth hemoglobin to reveal for the first time both the evolutionary origins and the structural underpinnings of a key adaptive physiochemical trait in an extinct species. Hemoglobin binds and carries O(2...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.574

    authors： Campbell KL,Roberts JE,Watson LN,Stetefeld J,Sloan AM,Signore AV,Howatt JW,Tame JR,Rohland N,Shen TJ,Austin JJ,Hofreiter M,Ho C,Weber RE,Cooper A

    更新日期：2010-06-01 00:00:00

  • Toward genome-wide SNP genotyping.

    abstract：:Genome-wide association studies with SNP markers are expected to allow identification of genes that underlie complex disorders. Hundreds of thousands of SNP markers will be required for comprehensive genome-wide association studies. The development of microarray-based methods for SNP genotyping on this scale remains a...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1558

    authors： Syvänen AC

    更新日期：2005-06-01 00:00:00

  • BAP1 loss defines a new class of renal cell carcinoma.

    abstract：:The molecular pathogenesis of renal cell carcinoma (RCC) is poorly understood. Whole-genome and exome sequencing followed by innovative tumorgraft analyses (to accurately determine mutant allele ratios) identified several putative two-hit tumor suppressor genes, including BAP1. The BAP1 protein, a nuclear deubiquitina...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2323

    authors： Peña-Llopis S,Vega-Rubín-de-Celis S,Liao A,Leng N,Pavía-Jiménez A,Wang S,Yamasaki T,Zhrebker L,Sivanand S,Spence P,Kinch L,Hambuch T,Jain S,Lotan Y,Margulis V,Sagalowsky AI,Summerour PB,Kabbani W,Wong SW,Grishin N,

    更新日期：2012-06-10 00:00:00

  • Reply to 'Currently available bulk sequencing data do not necessarily support a model of neutral tumor evolution'.

    abstract：: ...

    journal_title：Nature genetics

    pub_type： 评论,信件

    doi：10.1038/s41588-018-0235-4

    authors： Werner B,Williams MJ,Barnes CP,Graham TA,Sottoriva A

    更新日期：2018-12-01 00:00:00

  • Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

    abstract：:Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms. With few exceptions, patients follow a homogen...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/2470

    authors： Minassian BA,Lee JR,Herbrick JA,Huizenga J,Soder S,Mungall AJ,Dunham I,Gardner R,Fong CY,Carpenter S,Jardim L,Satishchandra P,Andermann E,Snead OC 3rd,Lopes-Cendes I,Tsui LC,Delgado-Escueta AV,Rouleau GA,Scherer SW

    更新日期：1998-10-01 00:00:00

  • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

    abstract：:CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this r...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1407

    authors： Vissers LE,van Ravenswaaij CM,Admiraal R,Hurst JA,de Vries BB,Janssen IM,van der Vliet WA,Huys EH,de Jong PJ,Hamel BC,Schoenmakers EF,Brunner HG,Veltman JA,van Kessel AG

    更新日期：2004-09-01 00:00:00

  • Choose your target.

    abstract：:The technology of modifying endogenous genes has recently been extended from mice to Drosophila and sheep. Concurrently, genomic sequencing is uncovering thousands of previously uncharacterized genes. Armed with today's technologies, what are our best options for delineating the functions of these new genes? ...

    journal_title：Nature genetics

    pub_type： 杂志文章,评审

    doi：10.1038/82825

    authors： Capecchi MR

    更新日期：2000-10-01 00:00:00

  • Defective colour vision associated with a missense mutation in the human green visual pigment gene.

    abstract：:All red/green colour vision defects described so far have been associated with gross rearrangements within the red/green opsin gene array (Xq28). We now describe a male with severe deuteranomaly without such a rearrangement. A substitution of a highly conserved cysteine by arginine at position 203 in the green opsins ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0792-251

    authors： Winderickx J,Sanocki E,Lindsey DT,Teller DY,Motulsky AG,Deeb SS

    更新日期：1992-07-01 00:00:00

  • Mi-2 complex couples DNA methylation to chromatin remodelling and histone deacetylation.

    abstract：:Methylation of DNA at the dinucleotide CpG is essential for mammalian development and is correlated with stable transcriptional silencing. This transcriptional silencing has recently been linked at a molecular level to histone deacetylation through the demonstration of a physical association between histone deacetylas...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/12664

    authors： Wade PA,Gegonne A,Jones PL,Ballestar E,Aubry F,Wolffe AP

    更新日期：1999-09-01 00:00:00

  • Zinc transport and diabetes risk.

    abstract：:Genome-wide association studies have previously identified variants in SLC30A8, encoding the zinc transporter ZnT8, associated with diabetes risk. A rare variant association study has now established the direction of effect, surprisingly showing that loss-of-function mutations in SLC30A8 are protective against diabete...

    journal_title：Nature genetics

    pub_type： 评论,杂志文章

    doi：10.1038/ng.2934

    authors： Pearson E

    更新日期：2014-04-01 00:00:00

  • A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2.

    abstract：:Obesity is a major predisposing factor for the development of several chronic diseases including non-insulin dependent diabetes mellitus (NIDDM) and coronary heart disease (CHD). Leptin is a serum protein which is secreted by adipocytes and thought to play a role in the regulation of body fat. Leptin levels in humans ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0397-273

    authors： Comuzzie AG,Hixson JE,Almasy L,Mitchell BD,Mahaney MC,Dyer TD,Stern MP,MacCluer JW,Blangero J

    更新日期：1997-03-01 00:00:00

  • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

    abstract：:Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19-36 repeats while SCA1 alleles contain 43-81 repeats. We now show that in 63% of paternal transmissions, an increase in repeat numb...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1193-254

    authors： Chung MY,Ranum LP,Duvick LA,Servadio A,Zoghbi HY,Orr HT

    更新日期：1993-11-01 00:00:00

  • A recurrent inactivating mutation in RHOA GTPase in angioimmunoblastic T cell lymphoma.

    abstract：:The molecular mechanisms underlying angioimmunoblastic T cell lymphoma (AITL), a common type of mature T cell lymphoma of poor prognosis, are largely unknown. Here we report a frequent somatic mutation in RHOA (encoding p.Gly17Val) using exome and transcriptome sequencing of samples from individuals with AITL. Further...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2916

    authors： Yoo HY,Sung MK,Lee SH,Kim S,Lee H,Park S,Kim SC,Lee B,Rho K,Lee JE,Cho KH,Kim W,Ju H,Kim J,Kim SJ,Kim WS,Lee S,Ko YH

    更新日期：2014-04-01 00:00:00

  • Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.

    abstract：:We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.386

    authors： Perry JR,Stolk L,Franceschini N,Lunetta KL,Zhai G,McArdle PF,Smith AV,Aspelund T,Bandinelli S,Boerwinkle E,Cherkas L,Eiriksdottir G,Estrada K,Ferrucci L,Folsom AR,Garcia M,Gudnason V,Hofman A,Karasik D,Kiel DP,Lau

    更新日期：2009-06-01 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

  • 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

  • X-chromosome inactivation occurs at different times in different tissues of the post-implantation mouse embryo.

    abstract：:During mammalian development, one of the two X chromosomes in female embryos is randomly inactivated in the somatic cell in order to achieve gene dosage compensation. But is X inactivation established simultaneously or is it accomplished over time in a lineage-dependent fashion? We have examined this question in mouse...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0293-170

    authors： Tan SS,Williams EA,Tam PP

    更新日期：1993-02-01 00:00:00

  • Meta-analysis of gene-level tests for rare variant association.

    abstract：:The majority of reported complex disease associations for common genetic variants have been identified through meta-analysis, a powerful approach that enables the use of large sample sizes while protecting against common artifacts due to population structure and repeated small-sample analyses sharing individual-level ...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/ng.2852

    authors： Liu DJ,Peloso GM,Zhan X,Holmen OL,Zawistowski M,Feng S,Nikpay M,Auer PL,Goel A,Zhang H,Peters U,Farrall M,Orho-Melander M,Kooperberg C,McPherson R,Watkins H,Willer CJ,Hveem K,Melander O,Kathiresan S,Abecasis GR

    更新日期：2014-02-01 00:00:00

  • Lineage-specific functions of TET1 in the postimplantation mouse embryo.

    abstract：:The mammalian TET enzymes catalyze DNA demethylation. While they have been intensely studied as major epigenetic regulators, little is known about their physiological roles and the extent of functional redundancy following embryo implantation. Here we define non-redundant roles for TET1 at an early postimplantation st...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3868

    authors： Khoueiry R,Sohni A,Thienpont B,Luo X,Velde JV,Bartoccetti M,Boeckx B,Zwijsen A,Rao A,Lambrechts D,Koh KP

    更新日期：2017-07-01 00:00:00

  • Exome sequencing of liver fluke-associated cholangiocarcinoma.

    abstract：:Opisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes us...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2273

    authors： Ong CK,Subimerb C,Pairojkul C,Wongkham S,Cutcutache I,Yu W,McPherson JR,Allen GE,Ng CC,Wong BH,Myint SS,Rajasegaran V,Heng HL,Gan A,Zang ZJ,Wu Y,Wu J,Lee MH,Huang D,Ong P,Chan-on W,Cao Y,Qian CN,Lim KH,Ooi

    更新日期：2012-05-06 00:00:00