abstract：:The gene for familial chondrocalcinosis (MIM 118600; gene symbol CCAL2) has been localized to a 0.8-cM interval on the short arm of chromosome 5, between the polymorphic microsatellite markers D5S416 and D5S2114. We have undertaken the physical and transcript mapping of this interval, as well as regions telomeric to t...

journal_title：Genomics

authors： Rojas K,Serrano de la Peña L,Gallardo T,Simmons A,Nyce K,McGrath R,Considine E,Vasko AJ,Peterson E,Grady D,Cox R,Andrew LJ,Lovett M,Overhauser J,Williams CJ

更新日期：1999-12-01 00:00:00

abstract：:SHIP2 is a new member of the inositol polyphosphate 5-phosphatase family showing homology to SHIP1. The structure of both enzymes is characterized by the presence of a 5' SH2 domain, a central catalytic domain, and a 3' proline-rich region. Recent results suggest that SHIP2 and SHIP1 act downstream of various receptor...

journal_title：Genomics

authors： Schurmans S,Carrió R,Behrends J,Pouillon V,Merino J,Clément S

更新日期：1999-12-01 00:00:00

abstract：:Talin is a high-molecular-weight cytoskeletal protein, localized at cell-extracellular matrix associations known as focal contacts. In these regions, talin is thought to link integrin receptors to the actin cytoskeleton. Talin plays a key role in the assembly of actin filaments and in spreading and migration of variou...

journal_title：Genomics

authors： Ben-Yosef T,Francomano CA

更新日期：1999-12-01 00:00:00

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...

journal_title：Genomics

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

更新日期：1999-11-15 00:00:00

abstract：:Physical maps are important resources both in sequencing and in functional analyses of large genomes. Global contig-building approaches are regarded to be more efficient relative to the cumulative outcome of scattered and more localized physical mapping studies accompanying positional cloning. This work is part of an ...

journal_title：Genomics

authors： Klysik J,Cai WW,Yang C,Bradley A

更新日期：1999-11-15 00:00:00

abstract：:Indolethylamine N-methyltransferase (INMT) catalyzes the N-methylation of tryptamine and structurally related compounds. We recently cloned and characterized the rabbit INMT cDNA and gene as a step toward cloning the cDNA and gene for this enzyme in humans. We have now used a PCR-based approach to clone a human INMT c...

journal_title：Genomics

authors： Thompson MA,Moon E,Kim UJ,Xu J,Siciliano MJ,Weinshilboum RM

更新日期：1999-11-01 00:00:00

abstract：:The domestic dog is increasingly being recognized as a useful model for human disease. The aim of this study was to conduct the first detailed whole-genome comparison of human and dog using bidirectional heterologous chromosome painting (reciprocal Zoo-FISH) analysis. We used whole-chromosome paint probes produced fro...

journal_title：Genomics

authors： Breen M,Thomas R,Binns MM,Carter NP,Langford CF

更新日期：1999-10-15 00:00:00

abstract：:The distal end of chromosome 4q contains the locus involved in facioscapulohumeral muscular dystrophy (FSHD1). Specific genomic deletions within a tandem DNA repeat (D4Z4) are associated with the disease status, but no causal genes have yet been discovered. In a systematic search for genes, a 161-kb stretch of genomic...

journal_title：Genomics

authors： van Geel M,Heather LJ,Lyle R,Hewitt JE,Frants RR,de Jong PJ

更新日期：1999-10-01 00:00:00

abstract：:Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. A major locus (SPG4) causing AD-HSP in about 40% of the families was mapped to chromosome 2p. The analysis of six SPG4-linked AD-HSP families using the RED proce...

journal_title：Genomics

authors： Hazan J,Davoine CS,Mavel D,Fonknechten N,Paternotte C,Fizames C,Cruaud C,Samson D,Muselet D,Vega-Czarny N,Brice A,Gyapay G,Heilig R,Fontaine B,Weissenbach J

更新日期：1999-09-15 00:00:00

abstract：:Aldehyde reductase (EC 1.1.1.2; AKR1A1) is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. To study the regulation of its expression, the human aldehyde reductase gene and promoter were cloned and characterized. The protein coding region consists of eight exons,...

journal_title：Genomics

authors： Barski OA,Gabbay KH,Bohren KM

更新日期：1999-09-01 00:00:00

abstract：:A new member of the insulin gene superfamily (INSL5) was identified by searching EST databases for the presence of the conserved insulin B-chain cysteine motif. Human and murine INSL5 are both polypeptides of 135 amino acids, matching the classical signature of the insulin superfamily. Through the B- and A-chain regio...

journal_title：Genomics

authors： Conklin D,Lofton-Day CE,Haldeman BA,Ching A,Whitmore TE,Lok S,Jaspers S

更新日期：1999-08-15 00:00:00

abstract：:Mutations in the mouse dreher (dr) gene cause skeletal defects, hyperactivity, abnormal gait, deafness, white belly spotting, and hypoplasia of Müllerian duct derivatives. To map dr to high resolution, we utilized two crosses. Initially, we analyzed an intersubspecific intercross to construct a detailed genetic map of...

journal_title：Genomics

authors： Bergstrom DE,Gagnon LH,Eicher EM

更新日期：1999-08-01 00:00:00

abstract：:We have identified a gene at chromosome band 19q13.1, which is closely related to MLL. MLL is located in a region of chromosome 11q23 that has partial synteny with chromosome 19q. We have named this gene at 19q13.1, MLL2. MLL2 encodes a protein that exhibits a high level of similarity to MLL over several important pro...

journal_title：Genomics

authors： FitzGerald KT,Diaz MO

更新日期：1999-07-15 00:00:00

abstract：:The beclin 1 (BECN1) gene encodes a 60-kDa coiled-coil protein that interacts with the prototypic apoptosis inhibitor Bcl-2. Previous studies indicate that beclin 1 maps to a region approximately 150 kb centromeric to BRCA1 on chromosome 17q21 that is commonly deleted in breast, ovarian, and prostate cancer. The compl...

journal_title：Genomics

authors： Aita VM,Liang XH,Murty VV,Pincus DL,Yu W,Cayanis E,Kalachikov S,Gilliam TC,Levine B

更新日期：1999-07-01 00:00:00

abstract：:To identify genetic determinants relevant to non-insulin-dependent diabetes mellitus (NIDDM), we performed a genome-wide analysis for quantitative trait loci (QTLs) using 359 backcross progeny of the Otsuka Long-Evans Tokushima Fatty (OLETF) rat. The OLETF strain is a well-studied animal model of obese NIDDM, with fea...

journal_title：Genomics

authors： Watanabe TK,Okuno S,Oga K,Mizoguchi-Miyakita A,Tsuji A,Yamasaki Y,Hishigaki H,Kanemoto N,Takagi T,Takahashi E,Irie Y,Nakamura Y,Tanigami A

更新日期：1999-06-15 00:00:00

abstract：:By searching the Expressed Sequence Tag database, a full-length cDNA for a novel human CC chemokine was cloned. This cDNA encoded a 94-amino-acid protein with a putative signal peptide of 26 amino acids. The deduced mature protein had the four conserved cysteine residues characteristic of CC chemokines and showed 44% ...

journal_title：Genomics

authors： Guo RF,Ward PA,Hu SM,McDuffie JE,Huber-Lang M,Shi MM

更新日期：1999-06-15 00:00:00

abstract：:Aneuploidy is a characteristic of the majority of human cancers, and recent work has suggested that mitotic checkpoint defects play a role in its development. To further explore this issue, we isolated a novel human gene, MAD2B (MAD2L2), which is homologous to the spindle checkpoint gene MAD2 (MAD2L1). We determined t...

journal_title：Genomics

authors： Cahill DP,da Costa LT,Carson-Walter EB,Kinzler KW,Vogelstein B,Lengauer C

更新日期：1999-06-01 00:00:00

abstract：:A large insert canine genomic bacterial artificial chromosome (BAC) library was built from a Doberman pinscher. Approximately 166,000 clones were gridded on nine high-density hybridization filters. Insert analysis of randomly selected clones indicated a mean insert size of 155 kb and predicted 8.1 coverage of the cani...

journal_title：Genomics

authors： Li R,Mignot E,Faraco J,Kadotani H,Cantanese J,Zhao B,Lin X,Hinton L,Ostrander EA,Patterson DF,de Jong PJ

更新日期：1999-05-15 00:00:00

abstract：:Myeloproliferative disorders frequently show deletions or rearrangements of the long arm of chromosome 13. We report here the cloning of RNF6, a new gene that maps close to the chromosome 13 breakpoint in a case of myelofibrosis with a t(4;13)(q26;q12). RNF6 is predicted to encode a 685-amino-acid protein with a coile...

journal_title：Genomics

authors： Macdonald DH,Lahiri D,Sampath A,Chase A,Sohal J,Cross NC

更新日期：1999-05-15 00:00:00

abstract：:Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a...

journal_title：Genomics

authors： Heus HC,Hing A,van Baren MJ,Joosse M,Breedveld GJ,Wang JC,Burgess A,Donnis-Keller H,Berglund C,Zguricas J,Scherer SW,Rommens JM,Oostra BA,Heutink P

更新日期：1999-05-01 00:00:00

abstract：:We present a novel method, based on the hybridization of allele-specific oligonucleotide probes, that allows the specific detection of chromosome 21 alpha-satellite sequences. Absence of informative polymorphic markers from the centromeric region of chromosome 21 has constituted one of the difficulties in studying the...

journal_title：Genomics

authors： Maratou K,Siddique Y,Kessling AM,Davies GE

更新日期：1999-05-01 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：:Vertebrate tissue inhibitors of metalloproteinases (TIMPs) regulate extracellular matrix metalloproteinases and are thus involved in a wide variety of developmental and physiological processes. By identifying cDNAs of a transcript detected within an intron of the Drosophila synapsin gene we have cloned the Drosophila ...

journal_title：Genomics

authors： Pohar N,Godenschwege TA,Buchner E

更新日期：1999-04-15 00:00:00

abstract：:We have constructed a high-resolution map of a 6-Mb interval of human chromosome 5, band q31, incorporating 175 sequence tagged sites, of which 33 are genetic polymorphisms and 122 are nonredundant expressed sequences. The map was assembled initially as a YAC contig, incorporating data from radiation hybrid maps. To i...

journal_title：Genomics

authors： Horrigan SK,Bartoloni L,Speer MC,Fulton N,Kravarusic J,Ramesar R,Vance JM,Yamaoka LH,Westbrook CA

更新日期：1999-04-01 00:00:00

abstract：:Spatiotemporal expression of the PAX3 gene is tightly regulated during development. We have isolated and sequenced the 5'-flanking regulatory region of human PAX3. Primer extension and ribonuclease protection mapping revealed that transcription is initiated from a single start site downstream of a TATA-like motif in h...

journal_title：Genomics

authors： Okladnova O,Syagailo YV,Tranitz M,Riederer P,Stöber G,Mössner R,Lesch KP

更新日期：1999-04-01 00:00:00

abstract：:Heterotrimeric G proteins, composed of alpha, beta, and gamma subunits, transduce signals from transmembrane receptors to a wide range of intracellular effectors. The G protein gamma subunits, which play an indispensible role in this communication, constitute a large and diverse multigene family. Using an interspecifi...

journal_title：Genomics

authors： Downes GB,Gilbert DJ,Copeland NG,Gautam N,Jenkins NA

更新日期：1999-04-01 00:00:00

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...

journal_title：Genomics

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

abstract：:Multiple inositol polyphosphate phosphatase is the only enzyme known to hydrolyze the abundant metabolites inositol pentakisphosphate and inositol hexakisphosphate. We have previously demonstrated that the chick homolog of multiple inositol polyphosphate phosphatase, designated HiPER1, has a role in growth plate chond...

journal_title：Genomics

authors： Chi H,Tiller GE,Dasouki MJ,Romano PR,Wang J,O'keefe RJ,Puzas JE,Rosier RN,Reynolds PR

更新日期：1999-03-15 00:00:00

abstract：:The Lp mouse mutant provides a model for the severe human neural tube defect (NTD), cranio-rachischisis. To identify the Lp gene, a positional cloning approach has been adopted. Previously, linkage analysis in a large intraspecific backcross was used to map the Lp locus to distal mouse chromosome 1. Here we report a d...

journal_title：Genomics

authors： Eddleston J,Murdoch JN,Copp AJ,Stanier P

更新日期：1999-03-01 00:00:00

abstract：:Synucleins are a family of small intracellular proteins expressed mainly in the nervous system. The involvement of synucleins in neurodegeneration and malignancy has been demonstrated, but the physiological functions of these proteins remain elusive. Further studies including generation of animals with modified persyn...

journal_title：Genomics

authors： Alimova-Kost MV,Ninkina NN,Imreh S,Gnuchev NV,Adu J,Davies AM,Buchman VL

更新日期：1999-03-01 00:00:00

abstract：:The chromosomal band 17p11.2 is associated with a number of neurological disorders and malignant diseases. This region is also characterized by the presence of complex repeat elements that are probably responsible for the frequent occurrence of interstitial deletions, duplications, and isochromosome formation. In the ...

journal_title：Genomics

authors： Seranski P,Heiss NS,Dhorne-Pollet S,Radelof U,Korn B,Hennig S,Backes E,Schmidt S,Wiemann S,Schwarz CE,Lehrach H,Poustka A

更新日期：1999-02-15 00:00:00

abstract：:The olfactory receptor (OR) multigene family is widely distributed in the human genome. We characterize here a new cluster of four OR genes (HGMW-approved symbols OR7E20P, OR7E6P, OR7E21P, and OR7E22P) on human chromosome 3p13 that is contained in an approximately 250-kb region. This region has been physically mapped,...

journal_title：Genomics

authors： Brand-Arpon V,Rouquier S,Massa H,de Jong PJ,Ferraz C,Ioannou PA,Demaille JG,Trask BJ,Giorgi D

更新日期：1999-02-15 00:00:00

abstract：:Rippling muscle disease (RMD) is an autosomal dominant disorder characterized by electrically silent, percussion-induced muscular contractions. We previously reported the localization of a gene for RMD to 1q41-q42 by genome-wide linkage analysis in a large family from Oregon. This RMD gene was initially found to be co...

journal_title：Genomics

authors： Stephan DA,Hoffman EP

更新日期：1999-02-01 00:00:00

abstract：:Conductin or Axil, an Axin homolog, plays an important role in the regulation of beta-catenin stability in the Wnt signaling pathway. To facilitate the molecular analysis of the human gene, we isolated the human homolog, AXIN2. The cDNA contains a 2529-bp open reading frame and encodes a putative protein of 843 amino ...

journal_title：Genomics

authors： Mai M,Qian C,Yokomizo A,Smith DI,Liu W

更新日期：1999-02-01 00:00:00

abstract：:The procollagen C-proteinase enhancer (PCPE) is a glycoprotein that potentiates enzymatic cleavage of the type I procollagen C-propeptide by bone morphogenetic protein-1 (BMP-1). The human PCPE gene (PCOLCE) was previously mapped to 7q22, an area frequently disrupted in uterine leiomyomata, while disruption of the rat...

journal_title：Genomics

authors： Scott IC,Clark TG,Takahara K,Hoffman GG,Greenspan DS

更新日期：1999-01-15 00:00:00

abstract：:A human mitochondrial DNA (mtDNA) standard reference material (SRM 2392) will provide quality control when mtDNA is sequenced for forensic identifications, medical diagnosis, or mutation detection. SRM 2392 includes DNA from two lymphoblast cell cultures (CHR and 9947A) and cloned DNA from the CHR HV1 region, which co...

journal_title：Genomics

authors： Levin BC,Cheng H,Reeder DJ

更新日期：1999-01-15 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 novel weakly inward rectifying potassium channel Kir7.1 is a low-conductance channel that is predominantly expressed in epithelial cells. Here we describe a partial genomic characterization and the chromosomal assignment of the human Kir7.1 gene (KCNJ13). Analysis of the genomic structure using a PCR-based approac...

journal_title：Genomics

authors： Derst C,Döring F,Preisig-Müller R,Daut J,Karschin A,Jeck N,Weber S,Engel H,Grzeschik KH

更新日期：1998-12-15 00:00:00

abstract：:LBR (lamin B receptor) is an integral protein of the inner nuclear membrane encoded by a gene on human chromosome 1q42.1. LBR has a nucleoplasmic, amino-terminal domain of approximately 200 amino acids followed by a carboxyl-terminal domain similar in sequence to yeast and plant sterol reductases. We have determined t...

journal_title：Genomics

authors： Holmer L,Pezhman A,Worman HJ

更新日期：1998-12-15 00:00:00

abstract：:Differential epigenetic modification by methylation of CpG dinucleotides is a candidate mechanism that may identify the alleles of imprinted genes and result in monoallelic expression of either the maternal or the paternal allele. Determination of the allelic methylation status of imprinted genes in the gametes and du...

journal_title：Genomics

authors： McDonald LE,Paterson CA,Kay GF

更新日期：1998-12-15 00:00:00