Structure, chromosomal locus, and promoter of mouse Hes2 gene, a homologue of Drosophila hairy and Enhancer of split.

abstract：:Neuroendocrine-Dlg (NE-Dlg) is a member of the discs-large-related (DLG) subfamily of the membrane-associated guanylate kinase-related protein family. Based on evidence from model systems, this protein appears to be critical for synaptogenesis, acting as a site-specific organizational center for integral membrane prot...

journal_title：Genomics

authors： Stathakis DG,Lee D,Bryant PJ

更新日期：1998-04-15 00:00:00

abstract：:We have developed a high-information-content fingerprinting (HICF) system for bacterial artificial chromosome (BAC) clones using a Type IIS restriction endonuclease, HgaI, paired with a Type II restriction endonuclease, RsaI. In the method described, unknown five-base overhangs generated with HgaI are partially or ful...

journal_title：Genomics

authors： Ding Y,Johnson MD,Chen WQ,Wong D,Chen YJ,Benson SC,Lam JY,Kim YM,Shizuya H

更新日期：2001-06-01 00:00:00

abstract：:We used a combination of sequence analysis and exon trapping in an effort to determine the complete transcript map for a cosmid (6E5) derived from 12q13.3, a region of DNA sequence amplification in human cancers. This cosmid, previously known to contain three genes (CDK4, SAS, and OS9), was sequenced, and that informa...

journal_title：Genomics

authors： Elkahloun AG,Krizman DB,Wang Z,Hofmann TA,Roe B,Meltzer PS

更新日期：1997-06-01 00:00:00

abstract：:The major histocompatibility complex (MHC) class I region has been shown to be associated with a variety of immune and nonimmune disorders. In an effort to initiate steps designed to identify the idiopathic hemochromatosis disease gene (HFE), we have cloned and mapped two expressed messages using probes from the HLA-H...

journal_title：Genomics

authors： Venditti CP,Harris JM,Geraghty DE,Chorney MJ

更新日期：1994-07-15 00:00:00

abstract：:Klebsiella variicola is an emerging pathogen responsible for causing blood-stream infections, urinary and respiratory tract related diseases in humans. In this report, we describe the genome sequence data and phenotypic characterization of K. variicola strain KV093 isolated from India. Comparative genome sequence anal...

journal_title：Genomics

authors： Srinivasan VB,Rajamohan G

更新日期：2020-09-01 00:00:00

abstract：:We have constructed a genetic linkage map of 17 markers on the long arm of human chromosome 21, including six genes and two anonymous loci with a variable number of tandem repeats. The estimated length of the map is 103 cM in males and 140 cM in females, assuming Kosambi interference. Recombination in females was appr...

journal_title：Genomics

authors： Warren AC,Slaugenhaupt SA,Lewis JG,Chakravarti A,Antonarakis SE

更新日期：1989-05-01 00:00:00

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 ...

journal_title：Genomics

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

更新日期：2011-02-01 00:00:00

abstract：:Two murine homologs of the Drosophila Krüppel gene, a member of the gap class of developmental control genes that encode a protein with zinc fingers, were mapped to mouse chromosomes 8 and 11 by using somatic cell hybrids and an interspecific backcross. Surprisingly, both genes were closely linked to two previously ma...

journal_title：Genomics

authors： Nadeau JH,Birkenmeier CS,Chowdhury K,Crosby JL,Lalley PA

更新日期：1990-11-01 00:00:00

abstract：:Mutations in genes encoding polycystin-1 (PC1) and polycystin-2 cause autosomal dominant polycystic kidney disease. The polycystin protein family is composed of Ca2+-permeable pore-forming subunits and receptor-like integral membrane proteins. Here we describe a novel member of the polycystin-1-like subfamily, polycys...

journal_title：Genomics

authors： Yuasa T,Takakura A,Denker BM,Venugopal B,Zhou J

更新日期：2004-07-01 00:00:00

abstract：:The general strategies of phototransduction in vertebrates and invertebrates share many similarities, but differ significantly in their underlying molecular machinery. The CDS gene encodes the CDP-diacylglycerol synthase (CDS) enzyme and is required for phototransduction in Drosophila. Using a bioinformatic approach, ...

journal_title：Genomics

authors： Volta M,Bulfone A,Gattuso C,Rossi E,Mariani M,Consalez GG,Zuffardi O,Ballabio A,Banfi S,Franco B

更新日期：1999-01-01 00:00:00

abstract：:The two contiguous IGF2 (human insulin-like growth factor II) and H19 genes are reciprocally imprinted in both human and mouse. In most tissues, IGF2 is transcribed only from the paternal chromosome while H19 is transcribed only from the maternal allele. The presence of a differential methylation region (DMR) on the t...

journal_title：Genomics

authors： Vu TH,Li T,Nguyen D,Nguyen BT,Yao XM,Hu JF,Hoffman AR

更新日期：2000-03-01 00:00:00

abstract：:Genomic duplication, followed by divergence, contributes to organismal evolution. Several mechanisms, such as exon shuffling and alternative splicing, are responsible for novel gene functions, but they generate homologous domains and do not usually lead to drastic innovation. Major novelties can potentially be introdu...

journal_title：Genomics

authors： Okamura K,Feuk L,Marquès-Bonet T,Navarro A,Scherer SW

更新日期：2006-12-01 00:00:00

abstract：:We have determined the cDNA and genomic structure of a gene (-14 gene) that lies adjacent to the human alpha-globin cluster. Although it is expressed in a wide range of cell lines and tissues, a previously described erythroid-specific regulatory element that controls expression of the alpha-globin genes lies within in...

journal_title：Genomics

authors： Vyas P,Vickers MA,Picketts DJ,Higgs DR

更新日期：1995-10-10 00:00:00

abstract：:The NFAR gene (nuclear factor associated with dsRNA) encodes a putative transcription-associated factor that we have shown is a substrate for the interferon-inducible, dsRNA-dependent protein kinase, PKR. However, our protein expression analysis has revealed that NFAR exists as two major protein species of 90 kDa (NFA...

journal_title：Genomics

authors： Saunders LR,Jurecic V,Barber GN

更新日期：2001-01-15 00:00:00

abstract：:This communication describes a software tool that enables one to simulate large-scale regional mapping using an ordered shotgun sequencing approach. The analysis routines that are provided yield an estimate of the depth of coverage of the physical map, the largest contig formed, and the number of gaps remaining at any...

journal_title：Genomics

authors： Singh GB,Krawetz SA

更新日期：1995-01-20 00:00:00

abstract：:The recently described murine homeobox genes, Six1 and Six2, which are expressed during development in limb tendons, have also been shown to be expressed in skeletal and smooth muscle, respectively. We have cloned and sequenced a human SIX1 cDNA and shown by Northern blotting that it is expressed in adult skeletal mus...

journal_title：Genomics

authors： Boucher CA,Carey N,Edwards YH,Siciliano MJ,Johnson KJ

更新日期：1996-04-01 00:00:00

abstract：:Human Xq27 contains candidate regions for several disorders, yet is predicted to be a gene-poor cytogenetic band. We have developed a transcription map for the entire cytogenetic band to facilitate the identification of the relatively small number of expected candidate genes. Two approaches were taken to identify gene...

journal_title：Genomics

authors： Zucchi I,Jones J,Affer M,Montagna C,Redolfi E,Susani L,Vezzoni P,Parvari R,Schlessinger D,Whyte MP,Mumm S

更新日期：1999-04-15 00:00:00

abstract：:Rhodopsin kinase (RK) is a conserved component of the light adaptation and recovery pathways shared among rod and cone photoreceptors of a variety of species. To gain insight into transcriptional mechanisms driving RK and potentially other genes of similar spatial profile, the components and the interactions of the hi...

journal_title：Genomics

authors： Young JE,Kasperek EM,Vogt TM,Lis A,Khani SC

更新日期：2007-08-01 00:00:00

abstract：:A somatic cell hybrid panel, consisting of 25 cell lines, has been developed to localize loci subregionally on chromosome 22. Over 300 markers in the form of STSs or hybridization probes have been assigned to one of 24 unique regions or "bins" using this panel. This ordered collection of markers will aid in the assemb...

journal_title：Genomics

authors： Budarf ML,Eckman B,Michaud D,McDonald T,Gavigan S,Buetow KH,Tatsumura Y,Liu Z,Hilliard C,Driscoll D,Goldmuntz E,Meese E,Zwarthoff EC,Williams S,McDermid H,Dumanski JP,Biegel J,Bell CJ,Emanuel BS

更新日期：1996-07-15 00:00:00

abstract：:We describe an improved method for construction of yeast artificial-chromosome (YAC) libraries that contain large inserts of foreign DNA. The procedure consists of seven steps: (i) preparation of human DNA in agarose beads; (ii) partial digestion of the DNA with EcoRI; (iii) electrophoretic elimination of the smaller ...

journal_title：Genomics

authors： Imai T,Olson MV

更新日期：1990-10-01 00:00:00

abstract：:In humans, uridine 5'-diphosphate glucuronosyltransferase (UGT) operates in opposition to glucuronidase (GUS) to control activity of diverse metabolites such as hormones by reversible conjugation with glucuronic acid. Previous data revealed that, as in mammals, these enzymes are required for plant life in that a UGT f...

journal_title：Genomics

authors： Woo HH,Jeong BR,Hirsch AM,Hawes MC

更新日期：2007-07-01 00:00:00

abstract：:Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative condition, some types of which (notably CMT4A) are caused by mutations in the GDAP1 gene that encodes a protein of unknown molecular function implicated in regulation of mitochondrial fission. Here we present for the first time a functional analysis of...

journal_title：Genomics

authors： Ratajewski M,Pulaski L

更新日期：2009-12-01 00:00:00

abstract：:We describe the isolation and characterization of a human gene (CLCN3) and its murine homologue (Clcn3) sharing significant sequence and structural similarities with all previously identified members of the voltage-gated chloride channel (ClC) family. This gene is expressed primarily in tissues derived from neuroectod...

journal_title：Genomics

authors： Borsani G,Rugarli EI,Taglialatela M,Wong C,Ballabio A

更新日期：1995-05-01 00:00:00

abstract：:The lack of physical mapping data strongly restricts the analysis of the meningioma chromosomal region that was assigned to the bands 22q12.3-qter. Recently, we reported a new marker D22S16 for chromosome 22 that was assigned to the region 22q13-qter by in situ hybridization. Utilizing somatic cell hybrids we now subl...

journal_title：Genomics

authors： Herzog R,Gottert E,Henn W,Zang K,Blin N,Trent J,Meese E

更新日期：1991-08-01 00:00:00

abstract：:Fine mapping followed by candidate gene analysis of erd - a canine hereditary retinal degeneration characterized by aberrant photoreceptor development - established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is p...

journal_title：Genomics

authors： Goldstein O,Kukekova AV,Aguirre GD,Acland GM

更新日期：2010-12-01 00:00:00

abstract：:Specific language impairment (SLI) is defined as failure to acquire normal language skills despite adequate intelligence and environmental stimulation. Although SLI disorders are often heritable, the genetic basis is likely to involve a number of risk factors. This study describes a 7-year-old girl carrying an inherit...

journal_title：Genomics

authors： Kwasnicka-Crawford DA,Carson AR,Roberts W,Summers AM,Rehnström K,Järvelä I,Scherer SW

更新日期：2005-08-01 00:00:00

abstract：:TrxG and PcG complexes play key roles in the epigenetic regulation of development through H3K4me3 and H3K27me3 modification at specific sites throughout the human genome, but how these sites are selected is poorly understood. We find that in pluripotent cells, clustered CpG-islands at genes predict occupancy of H3K4me...

journal_title：Genomics

authors： Orlando DA,Guenther MG,Frampton GM,Young RA

更新日期：2012-11-01 00:00:00

abstract：:Recent studies on the molecular mechanisms controlling the mammalian cell cycle have disclosed a large family of cdc2-related serine/threonine kinases. Among this gene family, the PCTAIRE protein kinases comprise a distinct subfamily of unknown cellular function. To analyze the genomic structure and chromosomal locati...

journal_title：Genomics

authors： Okuda T,Valentine VA,Shapiro DN,Downing JR

更新日期：1994-05-01 00:00:00

abstract：:PKD1, the gene for the chromosome 16-linked form of autosomal dominant polycystic kidney disease, has previously been genetically mapped to an interval bounded by the polymorphic loci Fr3-42/EKMDA2 distally and O327hb/O90a proximally. More recently, 26.6PROX was identified as the closest proximal flanking locus. We se...

journal_title：Genomics

authors： Somlo S,Wirth B,Germino GG,Weinstat-Saslow D,Gillespie GA,Himmelbauer H,Steevens L,Coucke P,Willems P,Bachner L

更新日期：1992-05-01 00:00:00

abstract：:Recently, we identified multiple unique sequences in the 21q22.3 region and predicted them to be a cluster of genes encoding hair-specific keratin-associated proteins (KAPs). Detailed computer-aided analysis of these clustered genes revealed that the cluster spans over 165 kb and consists of 21 KAP-related sequences i...

journal_title：Genomics

authors： Shibuya K,Obayashi I,Asakawa S,Minoshima S,Kudoh J,Shimizu N

更新日期：2004-04-01 00:00:00