当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.

Abstract：

:The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major non-collagenous components of the tectorial membrane. Recently, the gene encoding mouse alpha-tectorin (Tecta) was mapped to a region of mouse chromosome 9, which shows evolutionary conservation with human chromosome 11q (ref. 3), where linkage was found in two families, one Belgian (DFNA12; ref. 4) and the other, Austrian (DFNA8; unpublished data), with autosomal dominant non-syndromic hearing impairment. We determined the complete sequence and the intron-exon structure of the human TECTA gene. In both families, mutation analysis revealed missense mutations which replace conserved amino-acid residues within the zona pellucida domain of TECTA. These findings indicate that mutations in TECTA are responsible for hearing impairment in these families, and implicate a new type of protein in the pathogenesis of hearing impairment.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Verhoeven K,Van Laer L,Kirschhofer K,Legan PK,Hughes DC,Schatteman I,Verstreken M,Van Hauwe P,Coucke P,Chen A,Smith RJ,Somers T,Offeciers FE,Van de Heyning P,Richardson GP,Wachtler F,Kimberling WJ,Willems PJ,Govaerts

doi

10.1038/ng0598-60

subject

Has Abstract

pub_date

1998-05-01 00:00:00

pages

60-2

issue

1

eissn

1061-4036

issn

1546-1718

journal_volume

19

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA.

    abstract：:Genetic integrity is crucial to normal cell function, and mutations in genes required for DNA replication and repair underlie various forms of genetic instability and disease, including cancer. One structural feature of intact genomes is runs of homopolymeric dC/dG. Here we describe an unusual mutator phenotype in Cae...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng928

    authors： Cheung I,Schertzer M,Rose A,Lansdorp PM

    更新日期：2002-08-01 00:00:00

  • Genome-wide significant risk associations for mucinous ovarian carcinoma.

    abstract：:Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 × 10(-8)), rs711830 at 2q31.1 (P = 7.5 × 10(...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3336

    authors： Kelemen LE,Lawrenson K,Tyrer J,Li Q,Lee JM,Seo JH,Phelan CM,Beesley J,Chen X,Spindler TJ,Aben KK,Anton-Culver H,Antonenkova N,Australian Cancer Study.,Australian Ovarian Cancer Study Group.,Ovarian Cancer Association Consor

    更新日期：2015-08-01 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

  • Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.

    abstract：:Non-insulin-dependent (type II) diabetes mellitus (NIDDM) is characterized by hyperglycaemia and insulin resistance, and affects nearly 5% of the general population. Inherited factors are important for its development, but the genes involved are unknown. We have identified a large pedigree in which NIDDM, in combinati...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0892-368

    authors： van den Ouweland JM,Lemkes HH,Ruitenbeek W,Sandkuijl LA,de Vijlder MF,Struyvenberg PA,van de Kamp JJ,Maassen JA

    更新日期：1992-08-01 00:00:00

  • Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.

    abstract：:Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increas...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.731

    authors： Painter JN,Anderson CA,Nyholt DR,Macgregor S,Lin J,Lee SH,Lambert A,Zhao ZZ,Roseman F,Guo Q,Gordon SD,Wallace L,Henders AK,Visscher PM,Kraft P,Martin NG,Morris AP,Treloar SA,Kennedy SH,Missmer SA,Montgomery GW,Z

    更新日期：2011-01-01 00:00:00

  • Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.

    abstract：:We sequenced eight melanoma exomes to identify new somatic mutations in metastatic melanoma. Focusing on the mitogen-activated protein (MAP) kinase kinase kinase (MAP3K) family, we found that 24% of melanoma cell lines have mutations in the protein-coding regions of either MAP3K5 or MAP3K9. Structural modeling predict...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.1041

    authors： Stark MS,Woods SL,Gartside MG,Bonazzi VF,Dutton-Regester K,Aoude LG,Chow D,Sereduk C,Niemi NM,Tang N,Ellis JJ,Reid J,Zismann V,Tyagi S,Muzny D,Newsham I,Wu Y,Palmer JM,Pollak T,Youngkin D,Brooks BR,Lanagan C,S

    更新日期：2011-12-25 00:00:00

  • R-spondin1 is essential in sex determination, skin differentiation and malignancy.

    abstract：:R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, th...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1907

    authors： Parma P,Radi O,Vidal V,Chaboissier MC,Dellambra E,Valentini S,Guerra L,Schedl A,Camerino G

    更新日期：2006-11-01 00:00:00

  • Early TP53 alterations engage environmental exposures to promote gastric premalignancy in an integrative mouse model.

    abstract：:Somatic alterations in cancer genes are being detected in normal and premalignant tissue, thus placing greater emphasis on gene-environment interactions that enable disease phenotypes. By combining early genetic alterations with disease-relevant exposures, we developed an integrative mouse model to study gastric prema...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-019-0574-9

    authors： Sethi NS,Kikuchi O,Duronio GN,Stachler MD,McFarland JM,Ferrer-Luna R,Zhang Y,Bao C,Bronson R,Patil D,Sanchez-Vega F,Liu JB,Sicinska E,Lazaro JB,Ligon KL,Beroukhim R,Bass AJ

    更新日期：2020-02-01 00:00:00

  • A high observed substitution rate in the human mitochondrial DNA control region.

    abstract：:The rate and pattern of sequence substitutions in the mitochondrial DNA (mtDNA) control region (CR) is of central importance to studies of human evolution and to forensic identity testing. Here, we report a direct measurement of the intergenerational substitution rate in the human CR. We compared DNA sequences of two ...

    journal_title：Nature genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1038/ng0497-363

    authors： Parsons TJ,Muniec DS,Sullivan K,Woodyatt N,Alliston-Greiner R,Wilson MR,Berry DL,Holland KA,Weedn VW,Gill P,Holland MM

    更新日期：1997-04-01 00:00:00

  • A point mutation in the FMR-1 gene associated with fragile X mental retardation.

    abstract：:The vast majority of patients with fragile X syndrome show a folate-sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic level, and both amplification of the (CGG)n repeat and hypermethylation of the CpG island in the 5' fragile X gene (FMR-1) at the molecular level. We have studied the FMR-1 gene of a patient ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0193-31

    authors： De Boulle K,Verkerk AJ,Reyniers E,Vits L,Hendrickx J,Van Roy B,Van den Bos F,de Graaff E,Oostra BA,Willems PJ

    更新日期：1993-01-01 00:00:00

  • Lung cancer susceptibility locus at 5p15.33.

    abstract：:We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 x 10(-7) and P = 4 x 10(-6)) and replicated by the ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.254

    authors： McKay JD,Hung RJ,Gaborieau V,Boffetta P,Chabrier A,Byrnes G,Zaridze D,Mukeria A,Szeszenia-Dabrowska N,Lissowska J,Rudnai P,Fabianova E,Mates D,Bencko V,Foretova L,Janout V,McLaughlin J,Shepherd F,Montpetit A,Narod S

    更新日期：2008-12-01 00:00:00

  • A genetic link between cold responses and flowering time through FVE in Arabidopsis thaliana.

    abstract：:Cold induces expression of a number of genes that encode proteins that enhance tolerance to freezing temperatures in plants. A cis-acting element responsive to cold and drought, the C-repeat/dehydration-responsive element (C/DRE), was identified in the Arabidopsis thaliana stress-inducible genes RD29A and COR15a and f...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1298

    authors： Kim HJ,Hyun Y,Park JY,Park MJ,Park MK,Kim MD,Kim HJ,Lee MH,Moon J,Lee I,Kim J

    更新日期：2004-02-01 00:00:00

  • Resequencing and mutational analysis using oligonucleotide microarrays.

    abstract：:Oligonucleotide microarray (DNA chip)-based hybridization analysis is a promising new technology which potentially allows rapid and cost-effective screens for all possible mutations and sequence variations in genomic DNA. Here, I review current strategies and uses for DNA chip-based resequencing and mutational analysi...

    journal_title：Nature genetics

    pub_type： 杂志文章,评审

    doi：10.1038/4469

    authors： Hacia JG

    更新日期：1999-01-01 00:00:00

  • Physical and neurobehavioral determinants of reproductive onset and success.

    abstract：:The ages of puberty, first sexual intercourse and first birth signify the onset of reproductive ability, behavior and success, respectively. In a genome-wide association study of 125,667 UK Biobank participants, we identify 38 loci associated (P < 5 × 10(-8)) with age at first sexual intercourse. These findings were t...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3551

    authors： Day FR,Helgason H,Chasman DI,Rose LM,Loh PR,Scott RA,Helgason A,Kong A,Masson G,Magnusson OT,Gudbjartsson D,Thorsteinsdottir U,Buring JE,Ridker PM,Sulem P,Stefansson K,Ong KK,Perry JRB

    更新日期：2016-06-01 00:00:00

  • Genomic privacy and limits of individual detection in a pool.

    abstract：:Recent studies have demonstrated that statistical methods can be used to detect the presence of a single individual within a study group based on summary data reported from genome-wide association studies (GWAS). We present an analytical and empirical study of the statistical power of such methods. We thereby aim to p...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.436

    authors： Sankararaman S,Obozinski G,Jordan MI,Halperin E

    更新日期：2009-09-01 00:00:00

  • Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.

    abstract：:Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of inherited disorders in which glycosylation of glycoproteins is defective due to mutations in genes required for the assembly of lipid-linked oligosaccharides, their transfer to nascent glycoproteins (CDG-I) or the processing of protein-bou...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0501-73

    authors： Lübke T,Marquardt T,Etzioni A,Hartmann E,von Figura K,Körner C

    更新日期：2001-05-01 00:00:00

  • A double-stranded RNA binding protein required for activation of repressed messages in mammalian germ cells.

    abstract：:Chromatin packaging in mammalian spermatozoa requires an ordered replacement of the somatic histones by two classes of spermatid-specific basic proteins, the transition proteins and the protamines. Temporal expression of transition proteins and protamines during spermatid differentiation is under translational control...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/9684

    authors： Zhong J,Peters AH,Lee K,Braun RE

    更新日期：1999-06-01 00:00:00

  • ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.

    abstract：:Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which a genetic influence is suspected. We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also w...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2007.59

    authors： Onouchi Y,Gunji T,Burns JC,Shimizu C,Newburger JW,Yashiro M,Nakamura Y,Yanagawa H,Wakui K,Fukushima Y,Kishi F,Hamamoto K,Terai M,Sato Y,Ouchi K,Saji T,Nariai A,Kaburagi Y,Yoshikawa T,Suzuki K,Tanaka T,Nagai T,

    更新日期：2008-01-01 00:00:00

  • Structural genomics: beyond the human genome project.

    abstract：:With access to whole genome sequences for various organisms and imminent completion of the Human Genome Project, the entire process of discovery in molecular and cellular biology is poised to change. Massively parallel measurement strategies promise to revolutionize how we study and ultimately understand the complex b...

    journal_title：Nature genetics

    pub_type： 杂志文章,评审

    doi：10.1038/13783

    authors： Burley SK,Almo SC,Bonanno JB,Capel M,Chance MR,Gaasterland T,Lin D,Sali A,Studier FW,Swaminathan S

    更新日期：1999-10-01 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

  • SGS1, the Saccharomyces cerevisiae homologue of BLM and WRN, suppresses genome instability and homeologous recombination.

    abstract：:The Escherichia coli gene recQ was identified as a RecF recombination pathway gene. The gene SGS1, encoding the only RecQ-like DNA helicase in Saccharomyces cerevisiae, was identified by mutations that suppress the top3 slow-growth phenotype. Relatively little is known about the function of Sgs1p because single mutati...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/83673

    authors： Myung K,Datta A,Chen C,Kolodner RD

    更新日期：2001-01-01 00:00:00

  • Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6.

    abstract：:Urolithiasis is one of the most common urologic diseases in industrialized societies. Calcium oxalate is the predominant component in 70-80% of kidney stones, and small changes in urinary oxalate concentration affect the risk of stone formation. SLC26A6 is an anion exchanger expressed on the apical membrane in many ep...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1762

    authors： Jiang Z,Asplin JR,Evan AP,Rajendran VM,Velazquez H,Nottoli TP,Binder HJ,Aronson PS

    更新日期：2006-04-01 00:00:00

  • Genomic and molecular characterization of esophageal squamous cell carcinoma.

    abstract：:Esophageal squamous cell carcinoma (ESCC) is prevalent worldwide and particularly common in certain regions of Asia. Here we report the whole-exome or targeted deep sequencing of 139 paired ESCC cases, and analysis of somatic copy number variations (SCNV) of over 180 ESCCs. We identified previously uncharacterized mut...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2935

    authors： Lin DC,Hao JJ,Nagata Y,Xu L,Shang L,Meng X,Sato Y,Okuno Y,Varela AM,Ding LW,Garg M,Liu LZ,Yang H,Yin D,Shi ZZ,Jiang YY,Gu WY,Gong T,Zhang Y,Xu X,Kalid O,Shacham S,Ogawa S,Wang MR,Koeffler HP

    更新日期：2014-05-01 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

  • A taste of pineapple evolution through genome sequencing.

    abstract：:The genome sequence assembly of the highly heterozygous Ananas comosus and its varieties is an impressive technical achievement. The sequence opens the door to a greater understanding of pineapple morphology and evolution. ...

    journal_title：Nature genetics

    pub_type： 评论,杂志文章

    doi：10.1038/ng.3450

    authors： Xu Q,Liu ZJ

    更新日期：2015-12-01 00:00:00

  • Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

    abstract：:Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) i...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/90050

    authors： Betz RC,Schoser BG,Kasper D,Ricker K,Ramírez A,Stein V,Torbergsen T,Lee YA,Nöthen MM,Wienker TF,Malin JP,Propping P,Reis A,Mortier W,Jentsch TJ,Vorgerd M,Kubisch C

    更新日期：2001-07-01 00:00:00

  • Common variants in FOXP1 are associated with generalized vitiligo.

    abstract：:In a recent genome-wide association study of generalized vitiligo, we identified ten confirmed susceptibility loci. By testing additional loci that showed suggestive association in the genome-wide study, using two replication cohorts of European descent, we observed replicated association of generalized vitiligo with ...

    journal_title：Nature genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1038/ng.602

    authors： Jin Y,Birlea SA,Fain PR,Mailloux CM,Riccardi SL,Gowan K,Holland PJ,Bennett DC,Wallace MR,McCormack WT,Kemp EH,Gawkrodger DJ,Weetman AP,Picardo M,Leone G,Taïeb A,Jouary T,Ezzedine K,van Geel N,Lambert J,Overbeck A

    更新日期：2010-07-01 00:00:00

  • Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis.

    abstract：:Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hyperabsorption. Most cases arise from a founder mutation in HFE (845G-->A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with beta2-microglobulin. Mice homozygous with respect...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1152

    authors： Muckenthaler M,Roy CN,Custodio AO,Miñana B,deGraaf J,Montross LK,Andrews NC,Hentze MW

    更新日期：2003-05-01 00:00:00

  • Transcription imparts architecture, function and logic to enhancer units.

    abstract：:Distal enhancers play pivotal roles in development and disease yet remain one of the least understood regulatory elements. We used massively parallel reporter assays to perform functional comparisons of two leading enhancer models and find that gene-distal transcription start sites are robust predictors of active enha...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-020-0686-2

    authors： Tippens ND,Liang J,Leung AK,Wierbowski SD,Ozer A,Booth JG,Lis JT,Yu H

    更新日期：2020-10-01 00:00:00

  • Integrated human genome-wide maps constructed using the CEPH reference panel.

    abstract：:High resolution linkage maps have proven to be invaluable tools in genetic investigations. We have assembled a collection of genetic maps constructed from primary data collected from investigators performing genotyping using the Centre Etude Polymorphism Humain (CEPH) reference pedigree panel. These maps were construc...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0494-391

    authors： Buetow KH,Weber JL,Ludwigsen S,Scherpbier-Heddema T,Duyk GM,Sheffield VC,Wang Z,Murray JC

    更新日期：1994-04-01 00:00:00