Assignment of the mouse homologues of 6 loci from HSA1p to chromosomes 3 and 4.

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：:The myotonic dystrophy (DM) region has been recently shown to be bracketed by two key recombinant events. One recombinant occurs in a Dutch DM family, which maps the DM locus distal to the ERCC1 gene and D19S115 (pE0.8). The other recombinant event is in a French Canadian DM family, which maps DM proximal to D19S51 (p...

journal_title：Genomics

authors： Shutler G,Korneluk RG,Tsilfidis C,Mahadevan M,Bailly J,Smeets H,Jansen G,Wieringa B,Lohman F,Aslanidis C

更新日期：1992-07-01 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：:Physical maps can be constructed by "fingerprinting" a large number of random clones and inferring overlap between clones when the fingerprints are sufficiently similar. E. Lander and M. Waterman (Genomics 2: 231-239, 1988) gave a mathematical analysis of such mapping strategies. The analysis is useful for comparing v...

journal_title：Genomics

authors： Port E,Sun F,Martin D,Waterman MS

更新日期：1995-03-01 00:00:00

abstract：:We mapped a new X-linked recessive atrophic macular degeneration locus to Xp21.1-p11.4 and show allelic involvement of the gene RPGR, which normally causes severe peripheral retinal degeneration leading to global blindness. Ten affected males whom we examined had primarily macular atrophy causing progressive loss of v...

journal_title：Genomics

authors： Ayyagari R,Demirci FY,Liu J,Bingham EL,Stringham H,Kakuk LE,Boehnke M,Gorin MB,Richards JE,Sieving PA

更新日期：2002-08-01 00:00:00

abstract：:In this report we define the genes of two-component regulatory systems in rice through a comprehensive computational analysis of rice (Oryza sativa L.) genome sequence databases. Thirty-seven genes were identified, including 5 HKs (cytokinin-response histidine protein kinase) (OsHK1-4, OsHKL1), 5 HPs (histidine phosph...

journal_title：Genomics

authors： Du L,Jiao F,Chu J,Jin G,Chen M,Wu P

更新日期：2007-06-01 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：:Data from family studies demonstrating RH:MYCL linkage (zeta = 4.07 at theta = 0.09) in paternal meioses are presented. Although positive, MYCL:PGM1 lods are not of the magnitude of those for RH:MYCL. Taken together, these results are consistent with the physical assignment of MYCL to 1p32. Furthermore, evidence to su...

journal_title：Genomics

authors： Zelinski T,Verville G,White L,Hamerton JL,McAlpine PJ,Lewis M

更新日期：1988-02-01 00:00:00

abstract：:We report the construction of a 1.5-Mb-resolution radiation hybrid map of the domestic cat genome. This new map includes novel microsatellite loci and markers derived from the 2X genome sequence that target previous gaps in the feline-human comparative map. Ninety-six percent of the 1793 cat markers we mapped have ide...

journal_title：Genomics

authors： Murphy WJ,Davis B,David VA,Agarwala R,Schäffer AA,Pearks Wilkerson AJ,Neelam B,O'Brien SJ,Menotti-Raymond M

更新日期：2007-02-01 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：:We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcom...

journal_title：Genomics

authors： Fisher SE,Hatchwell E,Chand A,Ockenden N,Monaco AP,Craig IW

更新日期：1995-09-20 00:00:00

abstract：:Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5. The clinical symptoms include growth and mental retardation, microcephaly, hypertelorism, epicanthal folds, hypotonia, and a high-pitched monochromatic cry that is usually considered diagnostic for the sy...

journal_title：Genomics

authors： Goodart SA,Simmons AD,Grady D,Rojas K,Moyzis RK,Lovett M,Overhauser J

更新日期：1994-11-01 00:00:00

abstract：:The primary structure of the human microsomal glutathione S-transferase gene (GST12) was determined by genomic cloning. The gene structure of GST12 spans 12.8 kb and consists of four exons and three introns. The coding sequence resides on exons 2, 3, and 4. Sequencing of the exons revealed two nucleotide differences c...

journal_title：Genomics

authors： Kelner MJ,Stokely MN,Stovall NE,Montoya MA

更新日期：1996-08-15 00:00:00

abstract：:Deletions giving rise to Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X chromosome. We present a molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions...

journal_title：Genomics

authors： Monaco AP,Bertelson CJ,Liechti-Gallati S,Moser H,Kunkel LM

更新日期：1988-01-01 00:00:00

abstract：:We recently reported the identification of a mouse cDNA encoding a new p53-associating protein that we called Mdmx because of its structural similarity to Mdm2, a well-known p53-binding protein. Here we report the isolation of a cDNA encoding the human homolog of Mdmx. The ORF of the cDNA encodes a protein of 490 amin...

journal_title：Genomics

authors： Shvarts A,Bazuine M,Dekker P,Ramos YF,Steegenga WT,Merckx G,van Ham RC,van der Houven van Oordt W,van der Eb AJ,Jochemsen AG

更新日期：1997-07-01 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：:We reported HIVID (high-throughput Viral Integration Detection), a novel experimental and computational method to detect the location of Hepatitis B Virus (HBV) integration breakpoints in Hepatocellular Carcinoma (HCC) genome. In this method, the fragments with HBV sequence were enriched by a set of HBV probes and the...

journal_title：Genomics

authors： Li W,Zeng X,Lee NP,Liu X,Chen S,Guo B,Yi S,Zhuang X,Chen F,Wang G,Poon RT,Fan ST,Mao M,Li Y,Li S,Wang J,Jianwang,Xu X,Jiang H,Zhang X

更新日期：2013-10-01 00:00:00

abstract：:Loss of heterozygosity (LOH) of chromosomal regions is crucial in tumor progression. In this study we assessed the potential of the Affymetrix GeneChip HuSNP mapping assay for detecting genome-wide LOH in prostate tumors. We analyzed two human prostate cell lines, P69SV40Tag (P69) and its tumorigenic subline, M12, and...

journal_title：Genomics

authors： Dumur CI,Dechsukhum C,Ware JL,Cofield SS,Best AM,Wilkinson DS,Garrett CT,Ferreira-Gonzalez A

更新日期：2003-03-01 00:00:00

abstract：:FAT, a new member of the human cadherin super-family, has been isolated from the T-leukemia cell line J6. The predicted protein closely resembles the Drosophila tumor suppressor fat, which is essential for controlling cell proliferation during Drosophila development. The gene has the potential to encode a large transm...

journal_title：Genomics

authors： Dunne J,Hanby AM,Poulsom R,Jones TA,Sheer D,Chin WG,Da SM,Zhao Q,Beverley PC,Owen MJ

更新日期：1995-11-20 00:00:00

abstract：:Cataract Tohoku (Cat(Tohm)) is a dominant cataract mutation that leads to severe degeneration of lens fiber cells. Linkage analysis showed that the Cat(Tohm) mutation is located on mouse chromosome 10, close to the gene for aquaporin-0 (Aqp0), which encodes a membrane protein that is expressed specifically in lens fib...

journal_title：Genomics

authors： Okamura T,Miyoshi I,Takahashi K,Mototani Y,Ishigaki S,Kon Y,Kasai N

更新日期：2003-04-01 00:00:00

abstract：:Hematopoietic cell phosphatase (Hcph) was identified by amplification of conserved protein tyrosine phosphatase sequences from a myeloid cell line and is predominantly expressed in hematopoietic cells. Hcph is unique in containing two, tandemly repeated, src-homology 2 domains in the amino terminal region of the phosp...

journal_title：Genomics

authors： Yi T,Gilbert DJ,Jenkins NA,Copeland NG,Ihle JN

更新日期：1992-11-01 00:00:00

abstract：:Formyl peptide receptors (FPRs) were firstly detected in immune cells where they act as key mediators of leukocyte chemotaxis, promoting the host defense against pathogens. Recently, three paralogs were reported in Homo sapiens (FPR1-3) and seven paralogs in Mus musculus (FPR1, FPRrs1-4, FPRrs6 and FPRrs7), but inform...

journal_title：Genomics

authors： Silva L,Mendes T,Antunes A

更新日期：2020-07-01 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：:Microcell hybrids containing various regions of human chromosome 8 were formed by microcell-mediated transfer of neo-tagged chromosome 8 into the cells derived from severe combined immunodeficiency (SCID) mouse. Thus, 110 cosmid markers were isolated from SV40-transformed SCID fibroblast cell line (SCVA) containing a ...

journal_title：Genomics

authors： Kurimasa A,Suzuki N,Kumano S,Li H,Wells D,Wagner MJ,Chen F,Chen DJ,Oshimura M

更新日期：1995-07-20 00:00:00

abstract：:4-Hydroxyphenylpyruvic acid dioxygenase (HPD) is an important enzyme in tyrosine catabolism in most organisms. The activity of this enzyme is expressed mainly in the liver and developmentally regulated in mammals, and a genetic deficiency in this enzyme in humans and mice leads to hereditary tyrosinemia type 3. Using ...

journal_title：Genomics

authors： Awata H,Endo F,Matsuda I

更新日期：1994-10-01 00:00:00

abstract：:Syndactyly in Holstein cattle is an autosomal recessive abnormality characterized by the fusion of the functional digits. This disorder has been previously mapped to the telomeric part of bovine chromosome 15. Here, we describe the fine-mapping of syndactyly in Holstein cattle to a 3.5-Mb critical interval using a com...

journal_title：Genomics

authors： Duchesne A,Gautier M,Chadi S,Grohs C,Floriot S,Gallard Y,Caste G,Ducos A,Eggen A

更新日期：2006-11-01 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：:Cystathionine beta-synthase [CBS; l-serine hydro-lyase (adding homocysteine), EC 4.2.1.22] catalyzes the first committed step of transsulfuration and is the enzyme deficient in classical homocystinuria. In this report, we describe the molecular cloning and the complete nucleotide sequence of the human CBS gene. We rep...

journal_title：Genomics

authors： Kraus JP,Oliveriusová J,Sokolová J,Kraus E,Vlcek C,de Franchis R,Maclean KN,Bao L,Bukovsk,Patterson D,Paces V,Ansorge W,Kozich V

更新日期：1998-09-15 00:00:00

abstract：:Southern blot analysis of genomic DNA from different strains of rat indicated that there were multiple copies of the gene encoding the second enzyme of the heme biosynthetic pathway, delta-aminolevulinate dehydratase (ALA-D). Two types of genomic clones were isolated from a Sprague-Dawley rat library. One appears to b...

journal_title：Genomics

authors： Bishop TR,Frelin LP,Boyer SH

更新日期：1990-08-01 00:00:00

abstract：:Williams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity of the elastin (ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the genes that contribute to features such as infantile hypercalcemi...

journal_title：Genomics

authors： Osborne LR,Martindale D,Scherer SW,Shi XM,Huizenga J,Heng HH,Costa T,Pober B,Lew L,Brinkman J,Rommens J,Koop B,Tsui LC

更新日期：1996-09-01 00:00:00