Comparative analysis of neurological disorders focuses genome-wide search for autism genes.


:The behaviors of autism overlap with a diverse array of other neurological disorders, suggesting common molecular mechanisms. We conducted a large comparative analysis of the network of genes linked to autism with those of 432 other neurological diseases to circumscribe a multi-disorder subcomponent of autism. We leveraged the biological process and interaction properties of these multi-disorder autism genes to overcome the across-the-board multiple hypothesis corrections that a purely data-driven approach requires. Using prior knowledge of biological process, we identified 154 genes not previously linked to autism of which 42% were significantly differentially expressed in autistic individuals. Then, using prior knowledge from interaction networks of disorders related to autism, we uncovered 334 new genes that interact with published autism genes, of which 87% were significantly differentially regulated in autistic individuals. Our analysis provided a novel picture of autism from the perspective of related neurological disorders and suggested a model by which prior knowledge of interaction networks can inform and focus genome-scale studies of complex neurological disorders.






Wall DP,Esteban FJ,Deluca TF,Huyck M,Monaghan T,Velez de Mendizabal N,Goñí J,Kohane IS




Has Abstract


2009-02-01 00:00:00
















  • Identification and characterization of circular RNA in lactating mammary glands from two breeds of sheep with different milk production profiles using RNA-Seq.

    abstract::CircRNA is a specific type of non-coding RNA that has been shown to have an important role in mammary gland (MG) activity, but no study of MG circRNA activity in sheep so far. In this study, the expression profile of circRNAs was investigated using RNA-Seq in MG parenchyma at peak lactation from Small-Tailed Han sheep...


    pub_type: 杂志文章


    authors: Hao Z,Zhou H,Hickford JGH,Gong H,Wang J,Hu J,Liu X,Li S,Zhao M,Luo Y

    更新日期:2020-05-01 00:00:00

  • RNA-sequencing reveals previously unannotated protein- and microRNA-coding genes expressed in aleurone cells of rice seeds.

    abstract::The rice genome annotation has been greatly improved in recent years, largely due to the availability of full length cDNA sequences derived from many tissues. Among those yet to be studied is the aleurone layer, which produces hydrolases for mobilization of seed storage reserves during seed germination and post germin...


    pub_type: 杂志文章


    authors: Watanabe KA,Ringler P,Gu L,Shen QJ

    更新日期:2014-01-01 00:00:00

  • The gene for human glutaredoxin (GLRX) is localized to human chromosome 5q14.

    abstract::Glutaredoxin is a small protein (12 kDa) catalyzing glutathione-dependent disulfide oxidoreduction reactions in a coupled system with NADPH, GSH, and glutathione reductase. A cDNA encoding the human glutaredoxin gene (HGMW-approved symbol GLRX) has recently been isolated and cloned from a human fetal spleen cDNA libra...


    pub_type: 杂志文章


    authors: Padilla CA,Bajalica S,Lagercrantz J,Holmgren A

    更新日期:1996-03-15 00:00:00

  • Structural analysis of the HLA-A/HLA-F subregion: precise localization of two new multigene families closely associated with the HLA class I sequences.

    abstract::Positional cloning strategies for the hemochromatosis gene have previously concentrated on a target area restricted to a maximum genomic expanse of 400 kb around the HLA-A and HLA-F loci. Recently, the candidate region has been extended to 2-3 Mb on the distal side of the MHC. In this study, 10 coding sequences [hemoc...


    pub_type: 杂志文章


    authors: Pichon L,Carn G,Bouric P,Giffon T,Chauvel B,Lepourcelet M,Mosser J,Legall JY,David V

    更新日期:1996-03-01 00:00:00

  • Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH.

    abstract::Equine Cerebellar Abiotrophy (CA) is a neurological disease found in Arabian horses. CA is characterized by post-natal degeneration of the Purkinje cells of the cerebellum. Signs of CA include ataxia, head tremors, and a lack of balance equilibrium. We have discovered a linkage of the CA phenotype to a microsatellite ...


    pub_type: 杂志文章


    authors: Brault LS,Cooper CA,Famula TR,Murray JD,Penedo MC

    更新日期:2011-02-01 00:00:00

  • Characterization of the MADH2/Smad2 gene, a human Mad homolog responsible for the transforming growth factor-beta and activin signal transduction pathway.

    abstract::The transforming growth factor beta (TGF-beta) superfamily is a family of multifunctional cytokines that transduce signals via serine/threonine kinase receptors. Recent studies revealed that Mothers against dpp (Mad) in Drosophila and its homologs play important roles in the intracellular signal transduction of the se...


    pub_type: 杂志文章


    authors: Takenoshita S,Mogi A,Nagashima M,Yang K,Yagi K,Hanyu A,Nagamachi Y,Miyazono K,Hagiwara K

    更新日期:1998-02-15 00:00:00

  • An efficient method for selecting unique-sequence clones from DNA libraries and its application to fluorescent staining of human chromosome 21 using in situ hybridization.

    abstract::This paper describes an efficient procedure for selecting large numbers of unique-sequence or very low repeat-sequence probes from recombinant phage libraries. Probes were selected from the Charon 21A library LL21NS02 (made from DNA from human chromosome 21) in a multistep process in which (1) inserts from LL21NS02 we...


    pub_type: 杂志文章


    authors: Fuscoe JC,Collins CC,Pinkel D,Gray JW

    更新日期:1989-07-01 00:00:00

  • Elucidation of the minimal sequence required to imprint H19 transgenes.

    abstract::The imprinted mouse H19 gene exhibits maternal allele-specific expression and paternal allele-specific hypermethylation. We previously demonstrated that a 14-kb H19 minitransgene possessing 5' differentially methylated sequence recapitulates the endogenous H19 imprinting pattern when present as high-copy arrays. To in...


    pub_type: 杂志文章


    authors: Cranston MJ,Spinka TL,Elson DA,Bartolomei MS

    更新日期:2001-04-01 00:00:00

  • Structure, chromosomal location, and expression pattern of three mouse genes homologous to the human MAGE genes.

    abstract::The human MAGE1 gene directs the expression of an antigen recognized on a melanoma by autologous cytolytic T lymphocytes. MAGE1 belongs to a family of genes that are expressed in a number of tumors of various histological types but not in normal tissues except testis. The MAGE genes are arranged in two groups that are...


    pub_type: 杂志文章


    authors: De Backer O,Verheyden AM,Martin B,Godelaine D,De Plaen E,Brasseur R,Avner P,Boon T

    更新日期:1995-07-01 00:00:00

  • A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.

    abstract::Fibrillin-1 is a large cysteine-rich glycoprotein of the 10-nm microfibrils in the extracellular matrix. A spectrum of mutations in the fibrillin-1 gene (FBN1) have been identified in patients with Marfan syndrome (MFS), and the majority of mutations resulting in the neonatal and often lethal form of MFS have been ide...


    pub_type: 杂志文章


    authors: Lönnqvist L,Karttunen L,Rantamäki T,Kielty C,Raghunath M,Peltonen L

    更新日期:1996-09-15 00:00:00

  • Contig assembly of bacterial artificial chromosome clones through multiplexed fluorescence-labeled fingerprinting.

    abstract::A rapid multiplexed fingerprinting method has been developed for bacterial artificial chromosome (BAC) contig assembly. Defined subsets of BAC DNA fragments that result from digestion by three paired restriction endonucleases are labeled with unique fluorescent F-ddATP for each subset. Lists of the labeled fragment si...


    pub_type: 杂志文章


    authors: Ding Y,Johnson MD,Colayco R,Chen YJ,Melnyk J,Schmitt H,Shizuya H

    更新日期:1999-03-15 00:00:00

  • A novel androgen-regulated gene, PMEPA1, located on chromosome 20q13 exhibits high level expression in prostate.

    abstract::Biologic effects of androgen on target cells are mediated in part by transcriptional regulation of androgen-regulated genes (ARGs) by androgen receptor. Using serial analysis of gene expression (SAGE), we have identified a comprehensive repertoire of ARGs in LNCaP cells. One of the SAGE-derived tags exhibiting homolog...


    pub_type: 杂志文章


    authors: Xu LL,Shanmugam N,Segawa T,Sesterhenn IA,McLeod DG,Moul JW,Srivastava S

    更新日期:2000-06-15 00:00:00

  • Genomic organization, promoter analysis, and chromosomal localization of the gene for the mouse glial high-affinity glutamate transporter Slc1a3.

    abstract::The mouse gene encoding glial high-affinity, Na+-dependent glutamate transporter Slc1a3 (GluT-1/GLAST) was isolated, and its structural organization was characterized. The gene appeared to exist as a single copy in the mouse genome and comprised 10 exons spanning more than 56 kilobases. The transcription initiation si...


    pub_type: 杂志文章


    authors: Hagiwara T,Tanaka K,Takai S,Maeno-Hikichi Y,Mukainaka Y,Wada K

    更新日期:1996-05-01 00:00:00

  • Genomic structure and chromosome location of the human mutT homologue gene MTH1 encoding 8-oxo-dGTPase for prevention of A:T to C:G transversion.

    abstract::8-Oxo-dGTP (8-oxo-7,8-dihydrodeoxyguanosine triphosphate) is produced by active oxygen species in the nucleotide pool of the cell and can be incorporated into cellular DNA. Human cells contain enzyme activity that hydrolyzes 8-oxo-dGTP to 8-oxo-dGMP, thereby preventing occurrence of mutations, caused by misincorporati...


    pub_type: 杂志文章


    authors: Furuichi M,Yoshida MC,Oda H,Tajiri T,Nakabeppu Y,Tsuzuki T,Sekiguchi M

    更新日期:1994-12-01 00:00:00

  • Isolation, tissue distribution, and chromosomal localization of the human activation-induced cytidine deaminase (AID) gene.

    abstract::The gene encoding activation-induced cytidine deaminase (AID), a member of the cytidine deaminase family, was isolated from a murine B cell lymphoma line, CH12F3-2, induced by combined stimulation of TGF-beta, IL-4, and CD40L. We have isolated the human orthologue of mouse AID cDNA, which has an open reading frame of ...


    pub_type: 杂志文章


    authors: Muto T,Muramatsu M,Taniwaki M,Kinoshita K,Honjo T

    更新日期:2000-08-15 00:00:00

  • Identification of two evolutionarily conserved and functional regulatory elements in intron 2 of the human BRCA1 gene.

    abstract::Cross-species comparative genomics is a powerful strategy for identifying functional regulatory elements within noncoding DNA. In this paper, comparative analysis of human and mouse intronic sequences in the breast cancer susceptibility gene (BRCA1) revealed two evolutionarily conserved noncoding sequences (CNS) in in...


    pub_type: 杂志文章


    authors: Wardrop SL,Brown MA,kConFab Investigators.

    更新日期:2005-09-01 00:00:00

  • Tissue-specific expression and mapping of the Cox7ah gene in mouse.

    abstract::We have isolated and examined the gene for the heart isoform of cytochrome c oxidase subunit VIIa (COX VIIa-H) in mouse, an isoform gene previously thought to be lacking in rodents. Interspecies amino acid comparisons indicate that mouse COX VIIa-H protein displays 82.5 and 70.9% identity with the bovine and human hea...


    pub_type: 杂志文章


    authors: Jaradat SA,Ko MS,Grossman LI

    更新日期:1998-05-01 00:00:00

  • Chromosomal localization of seven members of the murine TGF-beta superfamily suggests close linkage to several morphogenetic mutant loci.

    abstract::Chromosomal locations have been assigned to seven members of the TGF-beta superfamily using an interspecific mouse backcross. Probes for the Tgfb-1, -2, and -3, Bmp-2a and -3, and Vgr-1 genes recognized only single loci, whereas the Bmp-2b probe recognized two independently segregating loci (designated Bmp-2b1 and Bmp...


    pub_type: 杂志文章


    authors: Dickinson ME,Kobrin MS,Silan CM,Kingsley DM,Justice MJ,Miller DA,Ceci JD,Lock LF,Lee A,Buchberg AM

    更新日期:1990-03-01 00:00:00

  • The Sp4H deletion may contain a new locus essential for postimplantation development.

    abstract::Sp4H is a semi-dominant mutation that maps to mouse chromosome 1. Heterozygous mice exhibit white spotting of the belly, whereas the fate of the homozygous embryos is unknown. We have previously shown that the entire coding region of the Pax3 gene is deleted in the Sp4H mutant. In this study, we have analyzed the fate...


    pub_type: 杂志文章


    authors: Fleming J,Pearce A,Brown SD,Steel KP

    更新日期:1996-06-01 00:00:00

  • Exploring the multi-drug resistance in Escherichia coli O157:H7 by gene interaction network: A systems biology approach.

    abstract::In the present study, we have constructed an interaction network of 29 antibiotic resistant genes along with 777 interactions in E. coli O157:H7. Gene ontology analysis reveals that 94, 89 and 67 genes have roles in the cellular process, biological process and molecular function respectively. Gene complexes related to...


    pub_type: 杂志文章


    authors: Miryala SK,Ramaiah S

    更新日期:2019-07-01 00:00:00

  • Multiple MSP pseudogenes in a local repeat cluster on 1p36.2: An expanding genomic graveyard?

    abstract::Chromosomal region 1p36.2 harbors an intriguing gene cluster of about 1 Mb. In addition to normal high-copy-number repeats, this cluster consists entirely of locally repeated sequences among which there are tRNA and small nuclear RNA (snRNA) genes. In 23 PACs and YACs from the 1p36.2 cluster, we identified eight diffe...


    pub_type: 杂志文章


    authors: van der Drift P,Chan A,Zehetner G,Westerveld A,Versteeg R

    更新日期:1999-11-15 00:00:00

  • A simple and highly efficient transgenesis method in mice with the Tol2 transposon system and cytoplasmic microinjection.

    abstract::Creating transgenic mice is an important technology for genetic studies and is currently performed by pronuclear microinjection of plasmid DNA into fertilized eggs. Since survival of injected embryos and integration of plasmid DNA are not efficient, total efficiency is only around 3% with a standard protocol. To circu...


    pub_type: 杂志文章


    authors: Sumiyama K,Kawakami K,Yagita K

    更新日期:2010-05-01 00:00:00

  • Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus.

    abstract::The gene for X-linked nephrogenic diabetes insipidus (NDI), a disorder which, if untreated, causes severe dehydration, mental retardation, and possibly death in affected males, has been mapped recently to the Xq28 band through demonstration of linkage to the DX552 locus and other DNA markers (N. Knoers et al., 1987, C...


    pub_type: 杂志文章


    authors: Knoers N,van der Heyden H,van Oost BA,Monnens L,Willems J,Ropers HH

    更新日期:1989-04-01 00:00:00

  • Structure, organization, and chromosomal mapping of the human neurogranin gene (NRGN).

    abstract::In this report the identification, structure, and chromosomal localization of the human neurogranin gene (NRGN) are described. NRGN is the human homolog of the rat Ng/RC3 gene, which encodes a brain-specific protein expressed in telencephalic neurons. The human NRGN gene spans approximately 12 kb and contains four exo...


    pub_type: 杂志文章


    authors: Martínez de Arrieta C,Pérez Jurado L,Bernal J,Coloma A

    更新日期:1997-04-15 00:00:00

  • Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1.

    abstract::Mutations in the FBN1 gene, encoding the extracellular matrix protein fibrillin-1, result in the dominant connective tissue disease Marfan syndrome. Marfan syndrome has a variable phenotype, even within families carrying the same FBN1 mutation. Differences in gene expression resulting from sequence differences in the ...


    pub_type: 杂志文章


    authors: Summers KM,Bokil NJ,Baisden JM,West MJ,Sweet MJ,Raggatt LJ,Hume DA

    更新日期:2009-10-01 00:00:00

  • The human C/EBP delta (CRP3/CELF) gene: structure and chromosomal localization.

    abstract::In an attempt to identify C/EBP-like transcription factors expressed in the prostate, a cDNA homologous to the mouse C/EBP delta (CRP3) and the rat CELF gene was isolated. A genomic clone containing the entire C/EBP delta gene was isolated using a cDNA fragment as a probe. The gene was characterized by restriction map...


    pub_type: 杂志文章


    authors: Cleutjens CB,van Eekelen CC,van Dekken H,Smit EM,Hagemeijer A,Wagner MJ,Wells DE,Trapman J

    更新日期:1993-05-01 00:00:00

  • Use of AFLP markers for gene mapping and QTL detection in the rat.

    abstract::The AFLP technique is a new DNA marker technology based on the selective amplification of restriction fragments. Multiple polymorphic markers are simultaneously produced and can be tested in one PCR. No prior information on genomic DNA sequences is needed. In the current study, we contribute 18 AFLP markers to the lin...


    pub_type: 杂志文章


    authors: Otsen M,den Bieman M,Kuiper MT,Pravenec M,Kren V,Kurtz TW,Jacob HJ,Lankhorst A,van Zutphen BF

    更新日期:1996-11-01 00:00:00

  • Comparative genomics study for identification of drug and vaccine targets in Vibrio cholerae: MurA ligase as a case study.

    abstract::A systematic workflow consisting of comparative genomics, metabolic pathways analysis and additional drug prioritization parameters identified 264 proteins of Vibrio cholerae which were predicted to be absent in Homo sapiens. Among these, 40 proteins were identified as essential proteins that could serve as potential ...


    pub_type: 杂志文章


    authors: Chawley P,Samal HB,Prava J,Suar M,Mahapatra RK

    更新日期:2014-01-01 00:00:00

  • A 1.2-Mb YAC contig spans the quaking region.

    abstract::We describe here a 1.2-Mb yeast artificial chromosome (YAC) contig within the region of mouse chromosome 17 between Brachyury (T) and D17Rp17e, and spanning the quaking (qk) region. We describe six new probes distributed across 1.2 Mb: D17Leh502, D17Leh503, D17Leh504, D17Leh505, D17Leh506, and D17Leh507. Probes D17Leh...


    pub_type: 杂志文章


    authors: Cox RD,Shedlovsky A,Hamvas R,Goldsworthy M,Whittington J,Connelly CS,Dove WF,Lehrach H

    更新日期:1994-05-01 00:00:00

  • The human glutamate dehydrogenase gene family: gene organization and structural characterization.

    abstract::Glutamate dehydrogenase is a mitochondrially located, key metabolic enzyme. In addition to its general metabolic role, GLUD is important in neurotransmission. Significant alterations in GLUD enzymatic activity have been associated with certain neurodegenerative human disorders. Although a single species of human GLUD ...


    pub_type: 杂志文章


    authors: Michaelidis TM,Tzimagiorgis G,Moschonas NK,Papamatheakis J

    更新日期:1993-04-01 00:00:00