A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.


:The Charcot-Marie Tooth disease type 1A (CMT1A) duplication and hereditary neuropathy with liability to pressure palsies (HNPP) deletion are reciprocal products of an unequal crossing-over event between misaligned flanking CMT1A-REP repeats. The molecular aetiology of this apparently homologous recombination event was examined by sequencing the crossover region. Through the detection of novel junction fragments from the recombinant CMT1A-REPs in both CMT1A and HNPP patients, a 1.7-kb recombination hotspot within the approximately 30-kb CMT1A-REPs was identified. This hotspot is 98% identical between CMT1A-REPs indicating that sequence identity is not likely the sole factor involved in promoting crossover events. Sequence analysis revealed a mariner transposon-like element (MITE) near the hotspot which we hypothesize could mediate strand exchange events via cleavage by a transposase at or near the 3' end of the element.


Nat Genet


Nature genetics


Reiter LT,Murakami T,Koeuth T,Pentao L,Muzny DM,Gibbs RA,Lupski JR




Has Abstract


1996-03-01 00:00:00












  • The parentage of a classic wine grape, Cabernet Sauvignon.

    abstract::The world's great wines are produced from a relatively small number of classic European cultivars of Vitis vinifera L Most are thought to be centuries old and their origins have long been the subject of speculation. Among the most prominent of these cultivars is Cabernet Sauvignon, described as "the world's most renow...

    journal_title:Nature genetics

    pub_type: 历史文章,杂志文章


    authors: Bowers JE,Meredith CP

    更新日期:1997-05-01 00:00:00

  • Identification of Grf1 on mouse chromosome 9 as an imprinted gene by RLGS-M.

    abstract::Normal mammalian development requires a diploid combination of both haploid parental genomes. Uniparental disomy for certain segments of specific chromosomes results in aberrant development or prenatal lethality, indicating that the parental genomes have undergone modifications during gametogenesis. These modification...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Plass C,Shibata H,Kalcheva I,Mullins L,Kotelevtseva N,Mullins J,Kato R,Sasaki H,Hirotsune S,Okazaki Y,Held WA,Hayashizaki Y,Chapman VM

    更新日期:1996-09-01 00:00:00

  • The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance.

    abstract::As genetic marker maps have improved, multipoint linkage analysis has become a crucial part of all disease mapping studies. Paradoxically, multipoint lod scores become increasingly difficult to compute, particularly as the numbers of markers, marker alleles and untyped people increase. We have solved this problem by u...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: O'Connell JR,Weeks DE

    更新日期:1995-12-01 00:00:00

  • Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.

    abstract::The homeodomain protein IPF1 (also known as IDX1, STF1 and PDX1; see Methods) is critical for development of the pancreas in mice and is a key factor for the regulation of the insulin gene in the beta-cells of the endocrine pancreas. Targeted disruption of the Ipf1 gene encoding IPF1 in transgenic mice results in a fa...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Stoffers DA,Zinkin NT,Stanojevic V,Clarke WL,Habener JF

    更新日期:1997-01-01 00:00:00

  • Identification of recurrent SMO and BRAF mutations in ameloblastomas.

    abstract::Here we report the discovery of oncogenic mutations in the Hedgehog and mitogen-activated protein kinase (MAPK) pathways in over 80% of ameloblastomas, locally destructive odontogenic tumors of the jaw, by genomic analysis of archival material. Mutations in SMO (encoding Smoothened, SMO) are common in ameloblastomas o...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Sweeney RT,McClary AC,Myers BR,Biscocho J,Neahring L,Kwei KA,Qu K,Gong X,Ng T,Jones CD,Varma S,Odegaard JI,Sugiyama T,Koyota S,Rubin BP,Troxell ML,Pelham RJ,Zehnder JL,Beachy PA,Pollack JR,West RB

    更新日期:2014-07-01 00:00:00

  • A mouse model of human L1 retrotransposition.

    abstract::The L1 retrotransposon has had an immense impact on the size and structure of the human genome through a variety of mechanisms, including insertional mutagenesis. To study retrotransposition in a living organism, we created a mouse model of human L1 retrotransposition. Here we show that L1 elements can retrotranspose ...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Ostertag EM,DeBerardinis RJ,Goodier JL,Zhang Y,Yang N,Gerton GL,Kazazian HH Jr

    更新日期:2002-12-01 00:00:00

  • A bisexually reproducing all-triploid vertebrate.

    abstract::Green toads are common in the Palaearctic region, where they have differentiated into several taxa. The toads exist with variable amounts of ploidy, similar to other anuran species or reptiles. In vertebrate biology, the very rare occurrence of triploidy is coupled with infertility or unisexuality, or requires the coe...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Stöck M,Lamatsch DK,Steinlein C,Epplen JT,Grosse WR,Hock R,Klapperstück T,Lampert KP,Scheer U,Schmid M,Schartl M

    更新日期:2002-03-01 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


    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

  • Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease.

    abstract::We aimed to identify genetic variants associated with heart failure by using a rat model of the human disease. We performed invasive cardiac hemodynamic measurements in F2 crosses between spontaneously hypertensive heart failure (SHHF) rats and reference strains. We combined linkage analyses with genome-wide expressio...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Monti J,Fischer J,Paskas S,Heinig M,Schulz H,Gösele C,Heuser A,Fischer R,Schmidt C,Schirdewan A,Gross V,Hummel O,Maatz H,Patone G,Saar K,Vingron M,Weldon SM,Lindpaintner K,Hammock BD,Rohde K,Dietz R,Cook SA,Sc

    更新日期:2008-05-01 00:00:00

  • The human PAX6 gene is mutated in two patients with aniridia.

    abstract::Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, AN, which is the human homologue of the mouse Pax-6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13. Here we describe mutations in this gene in two cases o...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Jordan T,Hanson I,Zaletayev D,Hodgson S,Prosser J,Seawright A,Hastie N,van Heyningen V

    更新日期:1992-08-01 00:00:00

  • Transferrin receptor is necessary for development of erythrocytes and the nervous system.

    abstract::Plasma iron circulates bound to transferrin (Trf), which solubilizes the ferric ion and attenuates its reactivity. Diferric Trf interacts with cell-surface Trf receptor (Trfr) to undergo receptor-mediated endocytosis into specialized endosomes. Endosomal acidification leads to iron release, and iron is transported out...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Levy JE,Jin O,Fujiwara Y,Kuo F,Andrews NC

    更新日期:1999-04-01 00:00:00

  • Publisher Correction: Eggs sense high-fat diet.

    abstract::In the version of this article originally published, a box was misplaced in Fig. 1. The error has been corrected in the HTML and PDF versions of the article. ...

    journal_title:Nature genetics

    pub_type: 杂志文章,已发布勘误


    authors: Leitch HG,Hajkova P

    更新日期:2018-08-01 00:00:00

  • Normal long bone growth and development in type X collagen-null mice.

    abstract::To investigate the role of type X collagen in skeletal development, we have generated type X collagen-null mice. Surprisingly, mice without type X collagen were viable and fertile and had no gross abnormalities in long bone growth or development. No differences were detected between the type X collagen-null mice and c...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Rosati R,Horan GS,Pinero GJ,Garofalo S,Keene DR,Horton WA,Vuorio E,de Crombrugghe B,Behringer RR

    更新日期:1994-10-01 00:00:00

  • Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation.

    abstract::Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the OrJ allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature b...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Burmeister M,Novak J,Liang MY,Basu S,Ploder L,Hawes NL,Vidgen D,Hoover F,Goldman D,Kalnins VI,Roderick TH,Taylor BA,Hankin MH,McInnes RR

    更新日期:1996-04-01 00:00:00

  • Nuclear reprogramming of cloned embryos and its implications for therapeutic cloning.

    abstract::Therapeutic cloning, whereby somatic cell nuclear transfer (SCNT) is used to generate patient-specific embryonic stem cells (ESCs) from blastocysts cloned by nuclear transfer (ntESCs), holds great promise for the treatment of many human diseases. ntESCs have been derived in mice and cattle, but thus far there are no c...

    journal_title:Nature genetics

    pub_type: 杂志文章,评审


    authors: Yang X,Smith SL,Tian XC,Lewin HA,Renard JP,Wakayama T

    更新日期:2007-03-01 00:00:00

  • DNA methylation dynamics during B cell maturation underlie a continuum of disease phenotypes in chronic lymphocytic leukemia.

    abstract::Charting differences between tumors and normal tissue is a mainstay of cancer research. However, clonal tumor expansion from complex normal tissue architectures potentially obscures cancer-specific events, including divergent epigenetic patterns. Using whole-genome bisulfite sequencing of normal B cell subsets, we obs...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Oakes CC,Seifert M,Assenov Y,Gu L,Przekopowitz M,Ruppert AS,Wang Q,Imbusch CD,Serva A,Koser SD,Brocks D,Lipka DB,Bogatyrova O,Weichenhan D,Brors B,Rassenti L,Kipps TJ,Mertens D,Zapatka M,Lichter P,Döhner H,Küppe

    更新日期:2016-03-01 00:00:00

  • Iron on the brain.

    abstract::Accumulations of iron are often detected in the brains of people suffering from neurodegenerative diseases. But it is often not known whether such accumulations contribute directly to disease progression. The identification of the genes mutated in two such disorders suggests that errors in iron metabolism do indeed ha...

    journal_title:Nature genetics

    pub_type: 评论,新闻


    authors: Rouault TA

    更新日期:2001-08-01 00:00:00

  • A co-clinical approach identifies mechanisms and potential therapies for androgen deprivation resistance in prostate cancer.

    abstract::Here we report an integrated analysis that leverages data from treatment of genetic mouse models of prostate cancer along with clinical data from patients to elucidate new mechanisms of castration resistance. We show that castration counteracts tumor progression in a Pten loss-driven mouse model of prostate cancer thr...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Lunardi A,Ala U,Epping MT,Salmena L,Clohessy JG,Webster KA,Wang G,Mazzucchelli R,Bianconi M,Stack EC,Lis R,Patnaik A,Cantley LC,Bubley G,Cordon-Cardo C,Gerald WL,Montironi R,Signoretti S,Loda M,Nardella C,Pandolfi

    更新日期:2013-07-01 00:00:00

  • Large intergenic non-coding RNA-RoR modulates reprogramming of human induced pluripotent stem cells.

    abstract::The conversion of lineage-committed cells to induced pluripotent stem cells (iPSCs) by reprogramming is accompanied by a global remodeling of the epigenome, resulting in altered patterns of gene expression. Here we characterize the transcriptional reorganization of large intergenic non-coding RNAs (lincRNAs) that occu...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Loewer S,Cabili MN,Guttman M,Loh YH,Thomas K,Park IH,Garber M,Curran M,Onder T,Agarwal S,Manos PD,Datta S,Lander ES,Schlaeger TM,Daley GQ,Rinn JL

    更新日期:2010-12-01 00:00:00

  • Quantitative expression of Oct-3/4 defines differentiation, dedifferentiation or self-renewal of ES cells.

    abstract::Cell fate during development is defined by transcription factors that act as molecular switches to activate or repress specific gene expression programmes. The POU transcription factor Oct-3/4 (encoded by Pou5f1) is a candidate regulator in pluripotent and germline cells and is essential for the initial formation of a...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Niwa H,Miyazaki J,Smith AG

    更新日期:2000-04-01 00:00:00

  • Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency.

    abstract::The T-cell receptor (TCR) is composed of two glycoproteins (alpha and beta or gamma and delta) associated with four invariant polypeptides (CD3-gamma, delta, epsilon and zeta). The majority of TCR/CD3 complexes contain six polypeptide chains, and although there is some flexibility in the complex subunit stoichiometry ...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Soudais C,de Villartay JP,Le Deist F,Fischer A,Lisowska-Grospierre B

    更新日期:1993-01-01 00:00:00

  • Enhancer mutations and phenotype modularity.

    abstract::Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis. ...

    journal_title:Nature genetics

    pub_type: 评论,新闻


    authors: Gordon CT,Lyonnet S

    更新日期:2014-01-01 00:00:00

  • The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.

    abstract::Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16. We have used an exon linking strategy, taking RNA from a cell line containing PKD1 but not the duplicate loci, to clone a cDNA contig of the entire transcript. The transcript consists of 14,...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Hughes J,Ward CJ,Peral B,Aspinwall R,Clark K,San Millán JL,Gamble V,Harris PC

    更新日期:1995-06-01 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


    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

  • The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.

    abstract::Pallid (pa) is 1 of 13 platelet storage pool deficiency (SPD) mouse mutants. pa animals suffer from prolonged bleeding time, pigment dilution, kidney lysosomal enzyme elevation, serum alpha1-antitrypsin activity deficiency and abnormal otolith formation. As with other mouse mutants of this class, characterization of p...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Huang L,Kuo YM,Gitschier J

    更新日期:1999-11-01 00:00:00

  • Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.

    abstract::Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in th...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Al-Mayouf SM,Sunker A,Abdwani R,Abrawi SA,Almurshedi F,Alhashmi N,Al Sonbul A,Sewairi W,Qari A,Abdallah E,Al-Owain M,Al Motywee S,Al-Rayes H,Hashem M,Khalak H,Al-Jebali L,Alkuraya FS

    更新日期:2011-10-23 00:00:00

  • Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.

    abstract::We conducted genome-wide association studies of non-Hodgkin lymphoma using Illumina HumanHap550 BeadChips to identify subtype-specific associations in follicular, diffuse large B-cell and chronic lymphocytic leukemia/small lymphocytic lymphomas. We found that rs6457327 on 6p21.33 was associated with susceptibility to ...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Skibola CF,Bracci PM,Halperin E,Conde L,Craig DW,Agana L,Iyadurai K,Becker N,Brooks-Wilson A,Curry JD,Spinelli JJ,Holly EA,Riby J,Zhang L,Nieters A,Smith MT,Brown KM

    更新日期:2009-08-01 00:00:00

  • A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

    abstract::The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and gamma-glutamyltranspeptidase (gammaGT) levels is genetically heterogeneous with loci on chromosomes 2q (PFIC2) a...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Strautnieks SS,Bull LN,Knisely AS,Kocoshis SA,Dahl N,Arnell H,Sokal E,Dahan K,Childs S,Ling V,Tanner MS,Kagalwalla AF,Németh A,Pawlowska J,Baker A,Mieli-Vergani G,Freimer NB,Gardiner RM,Thompson RJ

    更新日期:1998-11-01 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


    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

  • A cooperative microRNA-tumor suppressor gene network in acute T-cell lymphoblastic leukemia (T-ALL).

    abstract::The importance of individual microRNAs (miRNAs) has been established in specific cancers. However, a comprehensive analysis of the contribution of miRNAs to the pathogenesis of any specific cancer is lacking. Here we show that in T-cell acute lymphoblastic leukemia (T-ALL), a small set of miRNAs is responsible for the...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Mavrakis KJ,Van Der Meulen J,Wolfe AL,Liu X,Mets E,Taghon T,Khan AA,Setty M,Rondou P,Vandenberghe P,Delabesse E,Benoit Y,Socci NB,Leslie CS,Van Vlierberghe P,Speleman F,Wendel HG

    更新日期:2011-06-05 00:00:00