abstract：:Regions of the genome showing high evolutionary stability are often conserved as a result of functional constraints. Conversely, more variable regions are likely to represent DNA with no functional or structural importance. However, as in the case of immunologically important regions, sequence divergence does not alwa...

journal_title：Genomics

authors： Bowcock A,Cavalli-Sforza L

更新日期：1991-10-01 00:00:00

abstract：:TFE3, a member of the helix-loop-helix family of transcription factors, binds to the microE3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types. We have localized human TFE3 to the proximal short arm of the X chromosome using a somatic cell hybrid panel. A frequent RsaI RFLP detected ...

journal_title：Genomics

authors： Henthorn PS,Stewart CC,Kadesch T,Puck JM

更新日期：1991-10-01 00:00:00

abstract：:We have isolated cDNA clones that code for human cytochrome b5. Owing to the high degree of evolutionary conservation of cytochrome b5 sequences and the existence of human and rodent cytochrome b5 processed pseudogenes, we were unable to map unambiguously the chromosomal localization of the human gene(s) by Southern b...

journal_title：Genomics

authors： Shephard EA,Povey S,Spurr NK,Phillips IR

更新日期：1991-10-01 00:00:00

abstract：:Eight genes located on the short arm of the human X chromosome (MAOA, SYN1, OAT, OTC, CYBB, DMD, ZFX, POLA) have been mapped in several marsupial species by cell hybrid analysis and/or in situ hybridization using probes derived from human cDNA. Seven appear to be autosomal in all marsupial species examined. The eighth...

journal_title：Genomics

authors： Spencer JA,Sinclair AH,Watson JM,Graves JA

更新日期：1991-10-01 00:00:00

abstract：:The intercellular adhesion molecules ICAM1 and ICAM2 are the cell-surface ligands for the lymphocyte function-associated antigen LFA-1 (CD11a/CD18) and are thought to mediate cell-cell adhesion interactions required by the immune system. However, differences in tissue distribution, inducibility of expression, and over...

journal_title：Genomics

authors： Sansom D,Borrow J,Solomon E,Trowsdale J

更新日期：1991-10-01 00:00:00

abstract：:A rat genomic library was screened using a gastric H,K-ATPase beta-subunit cDNA probe, and two clones were identified. Restriction endonuclease mapping and Southern hybridization analyses indicated that each of these clones contains the entire H,K-ATPase beta-subunit gene. The nucleotide sequence was determined for th...

journal_title：Genomics

authors： Newman PR,Shull GE

更新日期：1991-10-01 00:00:00

abstract：:We describe the construction and characterization of methylation-resistant sequence-tagged NotI linking clones specific for the X chromosome, referred to as NotI-BsuE linking clones. The approach consists of methylating the X-chromosome-specific cloned DNA with BsuE methylase (M. BsuE), an enzyme that methylates the f...

journal_title：Genomics

authors： Arenstorf HP,Kandpal RP,Baskaran N,Parimoo S,Tanaka Y,Kitajima S,Yasukochi Y,Weissman SM

更新日期：1991-09-01 00:00:00

abstract：:Interspecific somatic cell hybrids containing single human chromosomes are valuable reagents for localization of cloned genes and DNA fragments to specific chromosomes, for the development of chromosome-specific libraries, and for generation of hybrid cell lines containing subchromosomal regions. A CHO somatic cell hy...

journal_title：Genomics

authors： Mares A Jr,Ledbetter SA,Ledbetter DH,Roberts R,Hejtmancik JF

更新日期：1991-09-01 00:00:00

abstract：:Treacher Collins syndrome is an autosomal dominant condition of bilateral craniofacial abnormalities of structures derived from the first and second branchial arches. A patient with severe manifestations of Treacher Collins syndrome and a de novo chromosomal deletion in region 4p15.32----p14 was identified. Anonymous ...

journal_title：Genomics

authors： Jabs EW,Coss CA,Hayflick SJ,Whitmore TE,Pauli RM,Kirkpatrick SJ,Meyers DA,Goldberg R,Day DW,Rosenbaum KN

更新日期：1991-09-01 00:00:00

abstract：:Thirty-five new, unique, DNA probes have been isolated and each has been assigned to one of five regions on chromosome 22. The distribution of probes along the chromosome is what would be expected based on the estimated size of each region with the exception of the short arm (22p). RFLP analysis was performed using 13...

journal_title：Genomics

authors： Budarf ML,McDermid HE,Sellinger B,Emanuel BS

更新日期：1991-08-01 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：:Forty-three sequences containing simple sequence repeats or microsatellites were generated from an M13 library of total genomic mouse DNA. These sequences were analyzed for size variation using the polymerase chain reaction and gel electrophoresis without the need for radiolabeling. Seventy-two percent of the sequence...

journal_title：Genomics

authors： Cornall RJ,Aitman TJ,Hearne CM,Todd JA

更新日期：1991-08-01 00:00:00

abstract：:The human genes encoding the alpha and beta forms of the retinoic acid receptor are known to be located on chromosomes 17 (band q21.1:RARA) and 3 (band p24:RARB). By in situ hybridization, we have now localized the gene for retinoic acid receptor gamma, RARG, on chromosome 12, band q13. We also mapped the three retino...

journal_title：Genomics

authors： Mattei MG,Rivière M,Krust A,Ingvarsson S,Vennström B,Islam MQ,Levan G,Kautner P,Zelent A,Chambon P

更新日期：1991-08-01 00:00:00

abstract：:Transcripts related to the human carcinoembryonic antigen were found in mRNA isolated from both dimethylbenzanthracene-induced and mouse mammary tumor virus-induced mammary tumors. A cDNA library was prepared from a dimethylbenzanthracene-induced tumor, and a clone was isolated by hybridization with a human carcinoemb...

journal_title：Genomics

authors： Robbins J,Robbins PF,Kozak CA,Callahan R

更新日期：1991-07-01 00:00:00

abstract：:Retinal degeneration slow (rds) is a mouse neurological mutation that is characterized phenotypically by abnormal development of rod and cone photoreceptors followed by their slow degeneration. This phenotype resembles the pathologic abnormalities seen in retinitis pigmentosa. The mouse rds gene has recently been clon...

journal_title：Genomics

authors： Travis GH,Christerson L,Danielson PE,Klisak I,Sparkes RS,Hahn LB,Dryja TP,Sutcliffe JG

更新日期：1991-07-01 00:00:00

abstract：:We have established PCR assays for the genes coding for the major proteins of the desmosome type of cell junction, the desmosomal cadherins DGI (desmoglein) and DGII/III (desmocollins), and the plaque proteins DPI/II (desmoplakin) and DPIII (plakoglobin) and used them to test human-mouse and human-rat somatic cell hyb...

journal_title：Genomics

authors： Arnemann J,Spurr NK,Wheeler GN,Parker AE,Buxton RS

更新日期：1991-07-01 00:00:00

abstract：:The sequence of 20,114 bp of DNA including the human glucose-6-phosphate dehydrogenase (G6PD) gene was determined. The region included a prominent CpG island, starting about 680 nucleotides upstream of the transcription start site, extending about 1050 nucleotides downstream of the start site, and ending just at the s...

journal_title：Genomics

authors： Chen EY,Cheng A,Lee A,Kuang WJ,Hillier L,Green P,Schlessinger D,Ciccodicola A,D'Urso M

更新日期：1991-07-01 00:00:00

abstract：:Mapping of 33 anonymous DNA probes and 12 genes to the long arm of chromosome 16 was achieved by the use of 14 mouse/human hybrid cell lines and the fragile site FRA16B. Two of the hybrid cell lines contained overlapping interstitial deletions in bands q21 and q22.1. The localization of the 12 genes has been refined. ...

journal_title：Genomics

authors： Chen LZ,Harris PC,Apostolou S,Baker E,Holman K,Lane SA,Nancarrow JK,Whitmore SA,Stallings RL,Hildebrand CE

更新日期：1991-06-01 00:00:00

abstract：:Using antibodies directed against the amino-terminus of dystrophin, we identified a truncated protein in a Duchenne muscular dystrophy patient. Antibodies directed against the carboxy-terminus failed to identify any cross-reactive material, a result consistent with premature termination of dystrophin translation. The ...

journal_title：Genomics

authors： Bulman DE,Gangopadhyay SB,Bebchuck KG,Worton RG,Ray PN

更新日期：1991-06-01 00:00:00

abstract：:Using cDNA probes obtained from library screening and anchored polymerase chain reaction, we have isolated and characterized three overlapping mouse genomic clones that contain the mouse lipocortin I (Lipo I) structural gene. Restriction enzyme mapping, Southern blotting, and DNA sequencing were carried out on the clo...

journal_title：Genomics

authors： Horlick KR,Cheng IC,Wong WT,Wakeland EK,Nick HS

更新日期：1991-06-01 00:00:00

abstract：:We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the insertion of a cytosine nucleotide in exon 13 in an Italian patient (CF252...

journal_title：Genomics

authors： White MB,Krueger LJ,Holsclaw DS Jr,Gerrard BC,Stewart C,Quittell L,Dolganov G,Baranov V,Ivaschenko T,Kapronov NI

更新日期：1991-05-01 00:00:00

abstract：:NotI and EagI boundary libraries were constructed for human chromosome 21. One hundred forty-seven clones were isolated from the somatic cell hybrid 72532X-6 and localized using a hybrid mapping panel. After identification of those clones, which were isolated more than once, as well as those probes derived from a prev...

journal_title：Genomics

authors： Gao JZ,Erickson P,Patterson D,Jones C,Drabkin H

更新日期：1991-05-01 00:00:00

abstract：:The Duchenne muscular dystrophy locus is remarkable in that it shows a high mutation rate and the majority of mutations found are deletions. These deletions are generated as meiotic as well as mitotic events and occur preferentially in the central region of the gene. Nothing is known so far about the mechanisms involv...

journal_title：Genomics

authors： Love DR,England SB,Speer A,Marsden RF,Bloomfield JF,Roche AL,Cross GS,Mountford RC,Smith TJ,Davies KE

更新日期：1991-05-01 00:00:00

abstract：:Linkage of the gene responsible for an X-linked early onset parkinsonism disorder with mental retardation (McKusick 311510) to DNA probes that detect restriction fragment length polymorphisms is described. The disease gene is linked to the F8C gene, and to DNA probes detecting polymorphic loci DXS52, DXS15, DXS134, an...

journal_title：Genomics

authors： Gregg RG,Metzenberg AB,Hogan K,Sekhon G,Laxova R

更新日期：1991-04-01 00:00:00

abstract：:Ten genes, located on the long arm of the human X chromosome, were mapped in several marsupial species by somatic cell analysis and in situ hybridization. All were located on the X chromosome in each species. We conclude that the long arm of the human X chromosome represents a highly conserved region that formed part ...

journal_title：Genomics

authors： Spencer JA,Watson JM,Graves JA

更新日期：1991-04-01 00:00:00

abstract：:A variety of cellular proteins have been found to bind to related DNA sequences in the enhancer elements of the human immunodeficiency virus, the kappa immunoglobulin gene, the class I major histocompatibility complex gene, and the beta-interferon gene. Recently, lambda gt11 gene expression cloning using ligated oligo...

journal_title：Genomics

authors： Gaynor RB,Muchardt C,Diep A,Mohandas TK,Sparkes RS,Lusis AJ

更新日期：1991-04-01 00:00:00

abstract：:Intercellular adhesion molecule-1 (ICAM-1) is an integral membrane protein, a member of the immunoglobulin superfamily, and a ligand for LFA-1, a beta 2 leukocyte integrin. ICAM-1 has a tissue distribution similar to that of the major histocompatibility complex class II antigens and is likely to play a role in inflamm...

journal_title：Genomics

authors： Ballantyne CM,Kozak CA,O'Brien WE,Beaudet AL

更新日期：1991-03-01 00:00:00

abstract：:The goat beta-globin cluster is composed of a triplicated four-gene set. A locus control region (LCR) containing elements homologous to 5'DNase I hypersensitive sites (HS) 1, 2, and 3 of the human beta-globin LCR has been identified at the 5' end of this locus. We determined 10.2 kb of nucleotide sequence from the goa...

journal_title：Genomics

authors： Li Q,Zhou B,Powers P,Enver T,Stamatoyannopoulos G

更新日期：1991-03-01 00:00:00

abstract：:A human tryptophan oxygenase clone was isolated by screening a liver cDNA library with a rat tryptophan oxygenase cDNA clone. Analysis showed extensive homology between the rat and the human DNA and protein sequences. The combined use of cell hybrids and in situ hydridization indicated that human tryptophan oxygenase ...

journal_title：Genomics

authors： Comings DE,Muhleman D,Dietz GW Jr,Donlon T

更新日期：1991-02-01 00:00:00

abstract：:We have isolated and sequenced part of a new gene of the tyrosine kinase family. This gene, called FLT3, has strong sequence similarities with members of a group of genes encoding growth factor receptors: FMS, KIT, and PDGFR. We have localized the human FLT3 gene to chromosome 13, band q12, and its mouse homolog to ch...

journal_title：Genomics

authors： Rosnet O,Matteï MG,Marchetto S,Birnbaum D

更新日期：1991-02-01 00:00:00

abstract：:By direct sequence analysis of 94 mutant phenylalanine hydroxylase alleles using polymerase chain reaction-based techniques, we identified a C to T transition in exon 7 of the human phenylalanine hydroxylase gene that is associated with RFLP haplotypes 1 and 4. A leucine for proline substitution at position 281 can be...

journal_title：Genomics

authors： Dworniczak B,Grudda K,Stümper J,Bartholomé K,Aulehla-Scholz C,Horst J

更新日期：1991-01-01 00:00:00

abstract：:The sequence of the gorilla alpha-fetoprotein gene, including 869 base pairs of the 5' flanking region and 4892 base pairs of the 3' flanking region (24,607 in total), was determined from two overlapping lambda phage clones. The sequence extends 18,846 base pairs from the Cap site to the polyadenylation site, and it r...

journal_title：Genomics

authors： Ryan SC,Zielinski R,Dugaiczyk A

更新日期：1991-01-01 00:00:00

abstract：:We have used radiation hybrid (RH) mapping and pulsed-field gel electrophoresis (PFGE) to determine the order and positions of 28 DNA markers from the distal region of the long arm of human chromosome 21. The maps generated by these two methods are in good agreement. This study, combined with that of D. R. Cox et al. ...

journal_title：Genomics

authors： Burmeister M,Kim S,Price ER,de Lange T,Tantravahi U,Myers RM,Cox DR

更新日期：1991-01-01 00:00:00

abstract：:The Friedreich's ataxia locus has been previously assigned to chromosome 9q 13-21.1 by the demonstration of tight linkage to two anonymous DNA markers. MCT112 (Z greater than 80, theta = 0) and DR47 (Z greater than 50, theta = 0). The absence of recombination between these three loci has prevented the resolution of ge...

journal_title：Genomics

authors： Wilkes D,Shaw J,Anand R,Riley J,Winter P,Wallis J,Driesel AG,Williamson R,Chamberlain S

更新日期：1991-01-01 00:00:00

abstract：:The molecular characterization of two patients with features of Beckwith-Wiedemann syndrome (BWS) and chromosome abnormalities is consistent with the association of this phenotype with a duplication of a portion of chromosome 11. Quantitative Southern blot analysis of DNA from patient A defines a large inherited dupli...

journal_title：Genomics

authors： Weksberg R,Glaves M,Teshima I,Waziri M,Patil S,Williams BR

更新日期：1990-12-01 00:00:00

abstract：:We present a rapid and efficient method for the isolation of minisatellite loci from human DNA. The method combines cloning a size-selected fraction of human MboI DNA fragments in a charomid vector with hybridization screening of the library in ordered array. Size-selection of large MboI fragments enriches for the lon...

journal_title：Genomics

authors： Armour JA,Povey S,Jeremiah S,Jeffreys AJ

更新日期：1990-11-01 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：:Immunoblotting of isoelectric focusing gels of plasma and direct genomic DNA sequencing have been used to characterize a mutation in apolipoprotein A-I associated with the familial amyloidotic polyneuropathy originally described by Van Allen in an Iowa kindred. An arginine for glycine substitution in apolipoprotein A-...

journal_title：Genomics

authors： Nichols WC,Gregg RE,Brewer HB Jr,Benson MD

更新日期：1990-10-01 00:00:00

abstract：:Isochromosome 17q has previously been observed consistently in cytogenetic studies of medulloblastoma, the most common posterior fossa neoplasm in children. We performed a restriction fragment length polymorphism (RFLP) investigation of medulloblastoma which showed a loss of chromosome 17p sequences in 45% of these tu...

journal_title：Genomics

authors： Cogen PH,Daneshvar L,Metzger AK,Edwards MS

更新日期：1990-10-01 00:00:00

abstract：:The genes encoding the alpha 1 chain of Type III collagen (COL3A1) and the alpha 2 chain of Type V (COL5A2) collagen have been mapped to the long arm of human chromosome 2. Linkage analysis in CEPH families indicated that these two genes are close to each other, with no recombination in 37 informative meioses. In the ...

journal_title：Genomics

authors： Cutting GR,McGinniss MJ,Kasch LM,Tsipouras P,Antonarakis SE

更新日期：1990-10-01 00:00:00