Identification of genes involved in Drosophila melanogaster geotaxis, a complex behavioral trait.


:Identifying the genes involved in polygenic traits has been difficult. In the 1950s and 1960s, laboratory selection experiments for extreme geotaxic behavior in fruit flies established for the first time that a complex behavioral trait has a genetic basis. But the specific genes responsible for the behavior have never been identified using this classical model. To identify the individual genes involved in geotaxic response, we used cDNA microarrays to identify candidate genes and assessed fly lines mutant in these genes for behavioral confirmation. We have thus determined the identities of several genes that contribute to the complex, polygenic behavior of geotaxis.


Nat Genet


Nature genetics


Toma DP,White KP,Hirsch J,Greenspan RJ





Has Abstract


2002-08-01 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


    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

  • Conventional wisdom.

    abstract::Recent agreement on stable reference sequences for reporting human genetic variants now allows us to mandate the use of the allele naming conventions developed by the Human Genome Variation Society. ...

    journal_title:Nature genetics

    pub_type: 社论



    更新日期:2010-05-01 00:00:00

  • SMARCB1 is required for widespread BAF complex-mediated activation of enhancers and bivalent promoters.

    abstract::Perturbations to mammalian SWI/SNF (mSWI/SNF or BAF) complexes contribute to more than 20% of human cancers, with driving roles first identified in malignant rhabdoid tumor, an aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit SMARCB1 (BAF47). However, the mechanism by...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Nakayama RT,Pulice JL,Valencia AM,McBride MJ,McKenzie ZM,Gillespie MA,Ku WL,Teng M,Cui K,Williams RT,Cassel SH,Qing H,Widmer CJ,Demetri GD,Irizarry RA,Zhao K,Ranish JA,Kadoch C

    更新日期:2017-11-01 00:00:00

  • Extensive allelic variation and ultrashort telomeres in senescent human cells.

    abstract::By imposing a limit on the proliferative lifespan of most somatic cells, telomere erosion represents an innate mechanism for tumor suppression and may contribute to age-related disease. A detailed understanding of the pathways that link shortened telomeres to replicative senescence has been severely hindered by the in...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Baird DM,Rowson J,Wynford-Thomas D,Kipling D

    更新日期:2003-02-01 00:00:00

  • 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


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

    更新日期:2002-08-01 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


    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

  • Genome-wide association study of flowering time and grain yield traits in a worldwide collection of rice germplasm.

    abstract::A high-density haplotype map recently enabled a genome-wide association study (GWAS) in a population of indica subspecies of Chinese rice landraces. Here we extend this methodology to a larger and more diverse sample of 950 worldwide rice varieties, including the Oryza sativa indica and Oryza sativa japonica subspecie...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Huang X,Zhao Y,Wei X,Li C,Wang A,Zhao Q,Li W,Guo Y,Deng L,Zhu C,Fan D,Lu Y,Weng Q,Liu K,Zhou T,Jing Y,Si L,Dong G,Huang T,Lu T,Feng Q,Qian Q,Li J,Han B

    更新日期:2011-12-04 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


    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

  • Inactivation of Capicua drives cancer metastasis.

    abstract::Metastasis is the leading cause of death in people with lung cancer, yet the molecular effectors underlying tumor dissemination remain poorly defined. Through the development of an in vivo spontaneous lung cancer metastasis model, we show that the developmentally regulated transcriptional repressor Capicua (CIC) suppr...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Okimoto RA,Breitenbuecher F,Olivas VR,Wu W,Gini B,Hofree M,Asthana S,Hrustanovic G,Flanagan J,Tulpule A,Blakely CM,Haringsma HJ,Simmons AD,Gowen K,Suh J,Miller VA,Ali S,Schuler M,Bivona TG

    更新日期:2017-01-01 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


    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

  • 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


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

    更新日期:2001-01-01 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


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

    更新日期:2009-09-01 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

  • Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

    abstract::CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CAS...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Najm J,Horn D,Wimplinger I,Golden JA,Chizhikov VV,Sudi J,Christian SL,Ullmann R,Kuechler A,Haas CA,Flubacher A,Charnas LR,Uyanik G,Frank U,Klopocki E,Dobyns WB,Kutsche K

    更新日期:2008-09-01 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


    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

  • Soundbites.

    abstract::Dentinogenesis imperfecta (DGI) is characterized by discolored teeth with an opalescent sheen and dentin that fails to support enamel, causing it to easily chip. Two new studies show that DGI is associated with mutations in DSPP, a gene encoding dentin sialophosphoprotein that is processed into two proteins: dentin si...

    journal_title:Nature genetics

    pub_type: 评论,杂志文章


    authors: Patel P

    更新日期:2001-02-01 00:00:00

  • In vivo RNA interference demonstrates a role for Nramp1 in modifying susceptibility to type 1 diabetes.

    abstract::Type 1 diabetes is an autoimmune disease influenced by multiple genetic loci. Although more than 20 insulin-dependent diabetes (Idd) loci have been implicated in the nonobese diabetic (NOD) mouse model, few causal gene variants have been identified. Here we show that RNA interference (RNAi) can be used to probe candid...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Kissler S,Stern P,Takahashi K,Hunter K,Peterson LB,Wicker LS

    更新日期:2006-04-01 00:00:00

  • DNMT1 is required to maintain CpG methylation and aberrant gene silencing in human cancer cells.

    abstract::Transcriptional silencing by CpG island methylation is a prevalent mechanism of tumor-suppressor gene suppression in cancers. Genetic experiments have defined the importance of the DNA methyltransferase Dnmt1 for the maintenance of methylation in mouse cells and its role in neoplasia. In human bladder cancer cells, se...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Robert MF,Morin S,Beaulieu N,Gauthier F,Chute IC,Barsalou A,MacLeod AR

    更新日期:2003-01-01 00:00:00

  • Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

    abstract::Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding a...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Crow YJ,Leitch A,Hayward BE,Garner A,Parmar R,Griffith E,Ali M,Semple C,Aicardi J,Babul-Hirji R,Baumann C,Baxter P,Bertini E,Chandler KE,Chitayat D,Cau D,Déry C,Fazzi E,Goizet C,King MD,Klepper J,Lacombe D,Lan

    更新日期:2006-08-01 00:00:00

  • Cryptorchidism in mice mutant for Insl3.

    abstract::Impaired testicular descent (cryptorchidism) is one of the most frequent congenital abnormalities in humans, involving 2% of male births. Cryptorchidism can result in infertility and increases risk for development of germ-cell tumours. Testicular descent from abdomen to scrotum occurs in two distinct phases: the trans...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Nef S,Parada LF

    更新日期:1999-07-01 00:00:00

  • Germline BAP1 mutations predispose to malignant mesothelioma.

    abstract::Because only a small fraction of asbestos-exposed individuals develop malignant mesothelioma, and because mesothelioma clustering is observed in some families, we searched for genetic predisposing factors. We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a hi...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Testa JR,Cheung M,Pei J,Below JE,Tan Y,Sementino E,Cox NJ,Dogan AU,Pass HI,Trusa S,Hesdorffer M,Nasu M,Powers A,Rivera Z,Comertpay S,Tanji M,Gaudino G,Yang H,Carbone M

    更新日期:2011-08-28 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


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

    更新日期:1993-11-01 00:00:00

  • Small island, big genetic discoveries.

    abstract::Three new studies have identified new genes and sequence variants implicated in blood lipids, inflammatory markers, hemoglobin levels and adult height variation in Sardinia. These reports highlight the usefulness of large-scale genotype imputation based on whole-genome sequencing, particularly in isolated populations,...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Lettre G,Hirschhorn JN

    更新日期:2015-11-01 00:00:00

  • A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).

    abstract::We conducted a three-stage genome-wide association study (GWAS) of breast cancer in 9,770 cases and 10,799 controls in the Cancer Genetic Markers of Susceptibility (CGEMS) initiative. In stage 1, we genotyped 528,173 SNPs in 1,145 cases of invasive breast cancer and 1,142 controls. In stage 2, we analyzed 24,909 top S...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Thomas G,Jacobs KB,Kraft P,Yeager M,Wacholder S,Cox DG,Hankinson SE,Hutchinson A,Wang Z,Yu K,Chatterjee N,Garcia-Closas M,Gonzalez-Bosquet J,Prokunina-Olsson L,Orr N,Willett WC,Colditz GA,Ziegler RG,Berg CD,Buys SS

    更新日期:2009-05-01 00:00:00

  • A single natural nucleotide mutation alters bacterial pathogen host tropism.

    abstract::The capacity of microbial pathogens to alter their host tropism leading to epidemics in distinct host species populations is a global public and veterinary health concern. To investigate the molecular basis of a bacterial host-switching event in a tractable host species, we traced the evolutionary trajectory of the co...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Viana D,Comos M,McAdam PR,Ward MJ,Selva L,Guinane CM,González-Muñoz BM,Tristan A,Foster SJ,Fitzgerald JR,Penadés JR

    更新日期:2015-04-01 00:00:00

  • Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.

    abstract::Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine tract in ataxin-1. In affected neurons of SCA1 patients and transgenic mice, mutant ataxin-1 accumulates in a single, ubiquitin-positive nuclear inclusion. In this study, we show that these i...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Cummings CJ,Mancini MA,Antalffy B,DeFranco DB,Orr HT,Zoghbi HY

    更新日期:1998-06-01 00:00:00

  • Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer.

    abstract::Gastric cancer is classified into intestinal and diffuse types, the latter including a highly malignant form, linitis plastica. A two-stage genome-wide association study (stage 1: 85,576 SNPs on 188 cases and 752 references; stage 2: 2,753 SNPs on 749 cases and 750 controls) in Japan identified a significant associati...

    journal_title:Nature genetics

    pub_type: 杂志文章,多中心研究


    authors: Study Group of Millennium Genome Project for Cancer.,Sakamoto H,Yoshimura K,Saeki N,Katai H,Shimoda T,Matsuno Y,Saito D,Sugimura H,Tanioka F,Kato S,Matsukura N,Matsuda N,Nakamura T,Hyodo I,Nishina T,Yasui W,Hirose H,H

    更新日期:2008-06-01 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


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

    更新日期:2001-12-01 00:00:00

  • Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).

    abstract::Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA ...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Ahn J,Lüdecke HJ,Lindow S,Horton WA,Lee B,Wagner MJ,Horsthemke B,Wells DE

    更新日期:1995-10-01 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