abstract：:The human gene XPC (formerly designated XPCC), which corrects the repair deficiency of xeroderma pigmentosum (XP) group C cells, was mapped to 3p25. A cDNA probe for Southern blot hybridization and diagnostic PCR analyses of hybrid clone panels informative for human chromosomes in general and portions of chromosome 3 ...

journal_title：Genomics

authors： Legerski RJ,Liu P,Li L,Peterson CA,Zhao Y,Leach RJ,Naylor SL,Siciliano MJ

更新日期：1994-05-01 00:00:00

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...

journal_title：Genomics

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

abstract：:Insulin-like growth factor binding proteins (IGFBPs) constitute a family of at least six secreted proteins that bind insulin-like growth factors I and II (IGF-I and -II) and are capable of modifying IGF actions on target cells. We previously have purified an approximately 29-kDa IGFBP that is secreted by myoblasts dur...

journal_title：Genomics

authors： Kou K,Jenkins NA,Gilbert DJ,Copeland NG,Rotwein P

更新日期：1994-04-01 00:00:00

abstract：:The rat HNF-3 (hepatocyte nuclear factor 3) gene family encodes three transcription factors known to be important in the regulation of gene expression in liver and lung. We have cloned and characterized the mouse genes and cDNAs for HNF-3 alpha, beta, and gamma and analyzed their expression patterns in various adult t...

journal_title：Genomics

authors： Kaestner KH,Hiemisch H,Luckow B,Schütz G

更新日期：1994-04-01 00:00:00

abstract：:Interleukin-1 beta (IL-1 beta) mediates a wide range of immune and inflammatory responses. The active cytokine is generated by proteolytic cleavage of an inactive precursor by a protease called the IL-1 beta converting enzyme (ICE). A cDNA encoding this protease was recently isolated. A human genomic clone containing ...

journal_title：Genomics

authors： Cerretti DP,Hollingsworth LT,Kozlosky CJ,Valentine MB,Shapiro DN,Morris SW,Nelson N

更新日期：1994-04-01 00:00:00

abstract：:Heme oxygenase catalyzes the oxidation of heme to biliverdin, the precursor of the bile pigment bilirubin, and carbon monoxide, a putative neurotransmitter. We have employed polymerase chain reaction and fluorescence in situ hybridization to determine the chromosome localization of the genes coding for the two known h...

journal_title：Genomics

authors： Kutty RK,Kutty G,Rodriguez IR,Chader GJ,Wiggert B

更新日期：1994-04-01 00:00:00

abstract：:Proprotein convertase 4 (PC4) is a mammalian secretory serine endoproteinase similar to the yeast KEX2 gene product and specifically expressed in testicular germs cells. PC4 mRNA isoforms that vary in size and 3' coding sequence have been reported (N. G. Seitah, R. Day, J. Hamelin, A. Gaspar, M. W. Collard, and M. Chr...

journal_title：Genomics

authors： Mbikay M,Raffin-Sanson ML,Tadros H,Sirois F,Seidah NG,Chretien M

更新日期：1994-03-15 00:00:00

abstract：:The v-ets oncogene family shares a conserved peptide motif called the ETS domain that mediates sequence-specific DNA binding. This motif is unique among transcription factor families. Using partially degenerate oligonucleotides from conserved regions of the ETS domain and the polymerase chain reaction, we isolated a n...

journal_title：Genomics

authors： Klemsz M,Hromas R,Raskind W,Bruno E,Hoffman R

更新日期：1994-03-15 00:00:00

abstract：:Defects in the human lysosomal acid lipase gene are responsible for cholesteryl ester storage disease (CESD) and Wolman disease. Exon skipping as the cause for CESD has been demonstrated. We present here a summary of the exon structure of the entire human lysosomal acid lipase gene consisting of 10 exons, together wit...

journal_title：Genomics

authors： Aslanidis C,Klima H,Lackner KJ,Schmitz G

更新日期：1994-03-15 00:00:00

abstract：:We used fluorescence in situ hybridization and digital image analysis to localize cosmids along human chromosome 17. Seventy-one cosmids were selected at random from a chromosome 17 library constructed from a partial Sau3AI digest of flow-sorted chromosomes from a mouse-human hybrid cell line. Sixty-three of these (89...

journal_title：Genomics

authors： Kallioniemi OP,Kallioniemi A,Mascio L,Sudar D,Pinkel D,Deaven L,Gray J

更新日期：1994-03-01 00:00:00

abstract：:Mice that are heterozygous for the ragged (Ra) mutation, which is semidominant, have ragged coats caused by an absence of certain hair types. Ra/Ra homozygous mice usually die soon after birth, are naked, and have edema. Mice that are homozygous for the recessive mutation wasted (wst) appear normal until soon after we...

journal_title：Genomics

authors： Abbott C,Malas S,Pilz A,Pate L,Ali R,Peters J

更新日期：1994-03-01 00:00:00

abstract：:We sequenced and analyzed 97.6 kb of new DNA sequence containing the human TCRAC (C alpha) and TCRDC (C delta) genes as well as the TCRDV3 (V delta 3) and 61 different TCRAJ (J alpha) gene segments and compared its organization and structure to the previously described mouse T-cell receptor TCRAC/TCRDC (C alpha/C delt...

journal_title：Genomics

authors： Koop BF,Rowen L,Wang K,Kuo CL,Seto D,Lenstra JA,Howard S,Shan W,Deshpande P,Hood L

更新日期：1994-02-01 00:00:00

abstract：:Because of the conservation of the ubiquitin coding sequence and the number of transcriptionally active genes and reverse-transcribed pseudogenes, it has not been possible to use ubiquitin cDNA clones to map the functional ubiquitin genes. The UBB and UBC polyubiquitin genes have previously been mapped by the use of s...

journal_title：Genomics

authors： Webb GC,Baker RT,Coggan M,Board PG

更新日期：1994-02-01 00:00:00

abstract：:The murine arylsulfatase A (ARSA) gene and cDNA have been cloned and sequenced. The gene is 3.8 kb long and contains eight exons. All intron/exon splice junctions conform to the GT/AG consensus sequence. The genomic structure is similar to that of the human gene. One major RNA species of 3.2 kb is transcribed. This RN...

journal_title：Genomics

authors： Kreysing J,Polten A,Hess B,von Figura K,Menz K,Steiner F,Gieselmann V

更新日期：1994-01-15 00:00:00

abstract：:This paper describes the Centre d'Etude du Polymorphisme Humain (CEPH) consortium linkage map of chromosome 9. A total of 124 markers were typed in the CEPH family DNAs by 14 contributing laboratories; of these, 42 loci are ordered on the map with likelihood support of at least 1000:1. The uniquely placed markers incl...

journal_title：Genomics

authors： Attwood J,Chiano M,Collins A,Donis-Keller H,Dracopoli N,Fountain J,Falk C,Goudie D,Gusella J,Haines J

更新日期：1994-01-15 00:00:00

abstract：:The gene encoding the brain alpha 2-adrenergic receptor (ADRA2C) is located on human chromosome 4. It has been circumstantially associated with a number of human disorders, including Parkinson disease, panic disorders, and Huntington disease (HD). Using somatic cell hybrids, we localized the gene to chromosome 4p16 di...

journal_title：Genomics

authors： Riess O,Thies U,Siedlaczck I,Potisek S,Graham R,Theilmann J,Grimm T,Epplen JT,Hayden MR

更新日期：1994-01-15 00:00:00

abstract：:We have isolated cDNA and genomic clones coding for the human alpha 7 neuronal nicotinic receptor subunit, the major component of brain nicotinic receptors that are blocked by alpha-bungarotoxin. The human alpha 7 neuronal nicotinic cDNA encodes a mature protein of 479 amino acids that is highly homologous to the rat ...

journal_title：Genomics

authors： Chini B,Raimond E,Elgoyhen AB,Moralli D,Balzaretti M,Heinemann S

更新日期：1994-01-15 00:00:00

abstract：:Pancreatitis-associated protein (PAP) is a secretory pancreatic protein present in small amounts in normal pancreas and overexpressed during the acute phase of the pancreatitis. In this paper, we describe the cloning, characterization, and chromosomal mapping of the human PAP gene. The gene spans 2748 bp and contains ...

journal_title：Genomics

authors： Dusetti NJ,Frigerio JM,Fox MF,Swallow DM,Dagorn JC,Iovanna JL

更新日期：1994-01-01 00:00:00

abstract：:The proximal portion of mouse chromosome 1 harbors a variety of mutant loci that have yet to be characterized at the molecular level. We have constructed a library of genomic DNA fragments from the proximal portion of mouse chromosome 1 by microdissection and microcloning techniques, with the aim of generating genetic...

journal_title：Genomics

authors： Epstein DJ,Bardeesy N,Vidal S,Malo D,Weith A,Vekemans M,Gros P

更新日期：1994-01-01 00:00:00

abstract：:Macrophage migration inhibitory factor (MIF) was originally identified as a lymphokine. However, recent work strongly suggests a wider role for MIF beyond the immune system. It is expressed specifically in the differentiating cells of the immunologically privileged eye lens and brain, is a delayed early response gene ...

journal_title：Genomics

authors： Paralkar V,Wistow G

更新日期：1994-01-01 00:00:00

abstract：:Interspersed repetitive sequence (IRS) PCR and repetitive element-to-bubble (IRS-bubble) PCR have been utilized to rapidly generate large numbers of mouse-specific, chromosome 1-enriched STSs from mouse-hamster somatic cell hybrids. Single-strand conformational polymorphism (SSCP) has been used to localize 39 new repe...

journal_title：Genomics

authors： Hunter KW,Watson ML,Rochelle J,Ontiveros S,Munroe D,Seldin MF,Housman DE

更新日期：1993-12-01 00:00:00

abstract：:The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t(11;22)(q24;q12) translocation that characterizes Ewing sarcoma and related neuroectodermal tumors. The EWS gene spans about 40 kb of DNA and is encoded by 17 exons. The nucleotide sequence of the exons is identical to that ...

journal_title：Genomics

authors： Plougastel B,Zucman J,Peter M,Thomas G,Delattre O

更新日期：1993-12-01 00:00:00

abstract：:CTP:phosphocholine cytidylyltransferase is the rate-controlling enzyme in phosphatidylcholine biosynthesis and is essential for the survival of eukaryotic cells. The murine cDNA for the cytidylyltransferase was cloned and sequenced. A genomic clone was isolated and the chromosomal location of the Ctpct locus determine...

journal_title：Genomics

authors： Rutherford MS,Rock CO,Jenkins NA,Gilbert DJ,Tessner TG,Copeland NG,Jackowski S

更新日期：1993-12-01 00:00:00

abstract：:Portions of 16 chromosome 21 NotI linking clones were sequenced. These linking clone sequences represent sequence-tagged restriction sites that are potentially useful for finding genes and for finer genome mapping and sequencing. All of the clones were G+C rich (54 to 83%). CpG and GpC dinucleotide frequencies were ve...

journal_title：Genomics

authors： Zhu Y,Cantor CR,Smith CL

更新日期：1993-11-01 00:00:00

abstract：:A genetic map of nine loci defined by polymorphic DNA markers was created using a single cross of F344/N and LEW/N rats. The markers contained polymorphic simple sequence repeats identified in five genes, renin (Ren), cardiac troponin T (Tnnt3), synaptotagmin (Syt2), Na+,K(+)-ATPase catalytic subunit (Atp1a2), and the...

journal_title：Genomics

authors： Remmers EF,Goldmuntz EA,Zha H,Mathern P,Du Y,Crofford LJ,Wilder RL

更新日期：1993-11-01 00:00:00

abstract：:SCG10 is a neuronal growth-associated protein that shares an amino acid sequence similarity with an 18- to 19-kDa phosphoprotein named stathmin (also called p19, p18, Op18, pp17, prosolin, pp20, 19K, and leukemia-associated phosphoprotein, Lap18), which is more broadly expressed in a variety of cell types of the neura...

journal_title：Genomics

authors： Okazaki T,Yoshida BN,Avraham KB,Wang H,Wuenschell CW,Jenkins NA,Copeland NG,Anderson DJ,Mori N

更新日期：1993-11-01 00:00:00

abstract：:The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based met...

journal_title：Genomics

authors： Heng HH,Xie B,Shi XM,Tsui LC,Mahuran DJ

更新日期：1993-11-01 00:00:00

abstract：:The Tcp-1 gene is located in the t-complex region of mouse chromosome 17 and on the long arm of human chromosome 6. In the mouse, a related gene, Tcp-1x, is tightly linked to Tcp-1. It is shown here that two genes located 3' to the murine Tcp-1 and Tcp-1x genes code for proteins highly homologous to acetyl-CoA acetylt...

journal_title：Genomics

authors： Ashworth A

更新日期：1993-11-01 00:00:00

abstract：:Activating mutations in the ras genes are commonly found in a wide range of human tumors. We recently cloned two mammalian genes, Son of sevenless 1 (mSos1) and Son of sevenless 2 (mSos2), whose protein products appear to be important positive regulators of ras proteins. Given the proposed role of Sos proteins in ras ...

journal_title：Genomics

authors： Webb GC,Jenkins NA,Largaespada DA,Copeland NG,Fernandez CS,Bowtell DD

更新日期：1993-10-01 00:00:00

abstract：:The chromosomal localization of the human Mu class glutathione S-transferase (GST) genes has been complicated by two factors; the total number of genes is unknown and there is a polymorphism that results from the presence or absence of the GSTM1 gene. Three human Mu class glutathione S-transferase isoenzymes, GSTM1, G...

journal_title：Genomics

authors： Ross VL,Board PG,Webb GC

更新日期：1993-10-01 00:00:00

abstract：:Aldose reductase (alditol:NAD(P)+ 1-oxidoreductase; EC 1.1.1.21) (AR) catalyzes the reduction of several aldehydes, including that of glucose, to the corresponding sugar alcohol. Using a complementary DNA clone encoding human AR, we mapped the gene sequences to human chromosomes 1, 3, 7, 9, 11, 13, 14, and 18 by somat...

journal_title：Genomics

authors： Bateman JB,Kojis T,Heinzmann C,Klisak I,Diep A,Carper D,Nishimura C,Mohandas T,Sparkes RS

更新日期：1993-09-01 00:00:00

abstract：:The chromosomal region 17q12-q21 contains a gene (BRCA1) conferring susceptibility to early-onset familial breast and ovarian cancer. An 8000-rad radiation-reduced hybrid (RH) panel was constructed to provide a resource for long-range mapping of this region. A large fraction of the hybrids (approximately 90%) retained...

journal_title：Genomics

authors： Abel KJ,Boehnke M,Prahalad M,Ho P,Flejter WL,Watkins M,VanderStoep J,Chandrasekharappa SC,Collins FS,Glover TW

更新日期：1993-09-01 00:00:00

abstract：:To facilitate studies of the SRY gene, a 4741-bp portion of the sex-determining region of the human Y chromosome was sequenced and characterized. Two RNAs were found to hybridize to this genomic segment, one transcript deriving from SRY and the second cross-hybridizing to a pseudogene located 2.5 kb 5' of the SRY open...

journal_title：Genomics

authors： Behlke MA,Bogan JS,Beer-Romero P,Page DC

更新日期：1993-09-01 00:00:00

abstract：:Ciliary neurotrophic factor (CNTF) has recently been found to be important for the survival of motor neurons and has shown activity in animal models of amyotrophic lateral sclerosis (ALS). CNTF therefore holds promise as a treatment for ALS, and it and its receptor (CNTFR) are candidates for a gene involved in familia...

journal_title：Genomics

authors： Donaldson DH,Britt DE,Jones C,Jackson CL,Patterson D

更新日期：1993-09-01 00:00:00

abstract：:Pulmonary surfactant consists of a complex mixture of phospholipids and several proteins essential to normal respiratory function. Two of the surfactant proteins, SP-A and SP-D, appear to have lectin-like activity relevant to the local phagocytic defense. Using polymerase chain reaction (PCR)-based somatic cell hybrid...

journal_title：Genomics

authors： Kölble K,Lu J,Mole SE,Kaluz S,Reid KB

更新日期：1993-08-01 00:00:00

abstract：:More than 500 backcross progeny from four intersubspecific backcrosses were typed for six markers on distal mouse chromosome 16. Five of these represented genes that mapped within the Sod-1 to Ets-2 interval, which was shown previously to contain the weaver (wv) gene. The map order, including previously mapped referen...

journal_title：Genomics

authors： Mjaatvedt AE,Citron MP,Reeves RH

更新日期：1993-08-01 00:00:00

abstract：:We have assigned the human tripeptidyl peptidase II (TPP2) gene to chromosome region 13q32-q33 using two different methods. First, a full-length TPP2 cDNA was used as a probe on Southern blots of DNA from a panel of human/rodent somatic cell hybrids. The TPP2 sequences were found to segregate with the human chromosome...

journal_title：Genomics

authors： Martinsson T,Vujic M,Tomkinson B

更新日期：1993-08-01 00:00:00

abstract：:We have analyzed tumor and lymphocyte DNA from six breast cancer patients by one- and two-dimensional DNA fingerprinting using micro- and minisatellite core probes to estimate the extent and nature of DNA alterations in tumors. Both approaches were compared regarding sensitivity in genome analysis. We find that the nu...

journal_title：Genomics

authors： Hovig E,Mullaart E,Børresen AL,Uitterlinden AG,Vijg J

更新日期：1993-07-01 00:00:00

abstract：:We describe a high-resolution radiation hybrid map of human chromosome 11q22-q23 containing the ataxia-telangiectasia (AT) disease gene loci. The order and intermarker distances of 32 chromosome 11q22-q23 markers were determined by a multipoint maximum likelihood method of analysis of the cosegregation of markers in 1...

journal_title：Genomics

authors： Richard CW 3rd,Cox DR,Kapp L,Murnane J,Cornelis F,Julier C,Lathrop GM,James MR

更新日期：1993-07-01 00:00:00

abstract：:A linkage analysis with 12 DNA markers from proximal 19q was performed in eight families with central core disease (CCO). Two-point analysis gave a peak lod score of Z = 4.95 at theta = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at theta = 0.00 for the ryanodine receptor (RYR1) candidate gene. Multipoint li...

journal_title：Genomics

authors： Schwemmle S,Wolff K,Palmucci LM,Grimm T,Lehmann-Horn F,Hübner C,Hauser E,Iles DE,MacLennan DH,Müller CR

更新日期：1993-07-01 00:00:00