Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.


:Deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfatase (GALNS;EC, results in the storage of the glycosaminoglycans, keratan sulfate and chondroitin 6-sulfate, which leads to the lysosomal storage disorder Morquio A syndrome. Four overlapping genomic clones derived from a chromosome 16-specific gridded cosmid library containing the entire GALNS gene were isolated. The structure of the gene and the sequence of the exon/intron boundaries and the 5' promoter region were determined. The GALNS gene is split into 14 exons spanning approximately 40 kb. The potential promoter for GALNS lacks a TATA box but contains GC box consensus sequences, consistent with its role as a housekeeping gene. The GALNS gene contains an Alu repeat in intron 5 and a VNTR-like sequence in intron 6.






Morris CP,Guo XH,Apostolou S,Hopwood JJ,Scott HS




Has Abstract


1994-08-01 00:00:00
















  • Mapping of aldose reductase gene sequences to human chromosomes 1, 3, 7, 9, 11, and 13.

    abstract::Aldose reductase (alditol:NAD(P)+ 1-oxidoreductase; EC (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...


    pub_type: 杂志文章


    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

  • Chromosome translocations in breast cancer with breakpoints at 8p12.

    abstract::Unbalanced chromosome translocations with breakpoints around 8p12, resulting in loss of distal 8p, are common in carcinomas. We have mapped the 8p12 breakpoints in three breast cancer cell lines, T-47D, MDA-MB-361, and ZR-75-1, using YACs and PACs between D8S540 and D8S255 by fluorescence in situ hybridization. All th...


    pub_type: 杂志文章


    authors: Courtay-Cahen C,Morris JS,Edwards PA

    更新日期:2000-05-15 00:00:00

  • Exploring the characteristics of sequence elements in proximal promoters of human genes.

    abstract::Central to reconstruction of cis-regulatory networks is identification and classification of naturally occurring transcription factor-binding sites according to the genes that they control. We have examined salient characteristics of 9-mers that occur in various orders and combinations in the proximal promoters of hum...


    pub_type: 杂志文章


    authors: Bina M,Wyss P,Ren W,Szpankowski W,Thomas E,Randhawa R,Reddy S,John PM,Pares-Matos EI,Stein A,Xu H,Lazarus SA

    更新日期:2004-12-01 00:00:00

  • Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.

    abstract::The microtubule-associated protein 1B (MAP1B) locus has been mapped in close proximity to spinal muscular atrophy (SMA) on chromosome 5q13. We have identified a second microsatellite within a MAP1B intron, which increases the heterozygosity of this locus to 94%. Two unambiguous recombination events establish MAP1B as ...


    pub_type: 杂志文章


    authors: Brzustowicz LM,Kleyn PW,Boyce FM,Lien LL,Monaco AP,Penchaszadeh GK,Das K,Wang CH,Munsat TL,Ott J

    更新日期:1992-08-01 00:00:00

  • Visual mapping by fiber-FISH.

    abstract::FISH techniques have opened new possibilities for high-resolution genome mapping. Effective utilization of these techniques for the rapid orientation and ordering of adjacent and overlapping probes as well as for the characterization of long-range genomic contigs would facilitate physical mapping and positional clonin...


    pub_type: 杂志文章


    authors: Heiskanen M,Hellsten E,Kallioniemi OP,Mäkelä TP,Alitalo K,Peltonen L,Palotie A

    更新日期:1995-11-01 00:00:00

  • Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes.

    abstract::The expression of plasma proteins changes dramatically as a result of cytokine induction, particularly interleukin-6, and their levels are used as clinical markers of inflammation. miRNAs are important regulators of gene expression and play significant roles in many inflammatory diseases and processes. The interaction...


    pub_type: 杂志文章


    authors: Lukowski SW,Fish RJ,Martin-Levilain J,Gonelle-Gispert C,Bühler LH,Maechler P,Dermitzakis ET,Neerman-Arbez M

    更新日期:2015-08-01 00:00:00

  • Assignment of a novel protein tyrosine phosphatase gene (Hcph) to mouse chromosome 6.

    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...


    pub_type: 杂志文章


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

    更新日期:1992-11-01 00:00:00

  • Association of a polymorphism of ABCB1 with obesity in Japanese individuals.

    abstract::The aim of the present study was to identify gene polymorphisms that confer susceptibility to obesity. A total of 5448 unrelated Japanese individuals from two independent populations were examined: subject panel A comprised 4252 individuals who visited participating hospitals; subject panel B comprised 1196 community-...


    pub_type: 杂志文章


    authors: Ichihara S,Yamada Y,Kato K,Hibino T,Yokoi K,Matsuo H,Kojima T,Watanabe S,Metoki N,Yoshida H,Satoh K,Aoyagi Y,Yasunaga A,Park H,Tanaka M,Nozawa Y

    更新日期:2008-06-01 00:00:00

  • Detecting lineage-specific adaptive evolution of brain-expressed genes in human using rhesus macaque as outgroup.

    abstract::Comparative genetic analysis between human and chimpanzee may detect genetic divergences responsible for human-specific characteristics. Previous studies have identified a series of genes that potentially underwent Darwinian positive selection during human evolution. However, without a closely related species as outgr...


    pub_type: 杂志文章


    authors: Yu XJ,Zheng HK,Wang J,Wang W,Su B

    更新日期:2006-12-01 00:00:00

  • The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.

    abstract::Hermansky-Pudlak syndrome (HPS) is a group of human disorders of organelle biogenesis characterized by defective synthesis of melanosomes, lysosomes, and platelet dense granules. In the mouse, at least 15 loci are associated with mutant phenotypes similar to human HPS. We have identified the gene mutated in cocoa (coa...


    pub_type: 杂志文章


    authors: Suzuki T,Li W,Zhang Q,Novak EK,Sviderskaya EV,Wilson A,Bennett DC,Roe BA,Swank RT,Spritz RA

    更新日期:2001-11-01 00:00:00

  • A radiation hybrid map of the BRCA1 region of chromosome 17q12-q21.

    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...


    pub_type: 杂志文章


    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

  • The CD39-like gene family: identification of three new human members (CD39L2, CD39L3, and CD39L4), their murine homologues, and a member of the gene family from Drosophila melanogaster.

    abstract::The human lymphoid cell activation antigen CD39 is a known E-type apyrase that hydrolyzes extracellular ATP and ADP, a function important in homotypic adhesion, platelet aggregation, and removal by activated lymphocytes of the lytic effect of ATP. The recently identified putative rat homologue of CD39L1 has been shown...


    pub_type: 杂志文章


    authors: Chadwick BP,Frischauf AM

    更新日期:1998-06-15 00:00:00

  • Identification and characterization of a cDNA and the structural gene encoding the mouse epithelial membrane protein-1.

    abstract::The PMP22/EMP/MP20 gene family includes four closely related proteins, peripheral myelin protein-22 (PMP22), epithelial membrane protein-1 (EMP-1), epithelial membrane protein-2 (EMP-2), and epithelial membrane protein-3 (EMP-3), which share amino acid identities ranging from 33 to 43%. In addition, the lens-specific ...


    pub_type: 杂志文章


    authors: Lobsiger CS,Magyar JP,Taylor V,Wulf P,Welcher AA,Program AE,Suter U

    更新日期:1996-09-15 00:00:00

  • Isolation and regional assignment of human chromosome 12p cDNAs.

    abstract::We have characterized 117 cDNAs isolated by direct cDNA selection using pools of human chromosome 12p cosmids. Sequencing revealed that 41 clones did overlap with other cDNAs. Of the remaining 76 cDNA sequences, 11 matched previously identified human chromosome 12p genes and 3 matched previously determined cDNA sequen...


    pub_type: 杂志文章


    authors: Baens M,Aerssens J,van Zand K,Van den Berghe H,Marynen P

    更新日期:1995-09-01 00:00:00

  • Use of the Indian muntjac idiogram to align conserved chromosomal segments in sheep and human genomes by chromosome painting.

    abstract::We have hybridized all 28 chromosome-specific painting probes from the domestic sheep (Ovis aries, 2n = 54) onto metaphase chromosomes of the Indian muntjac deer (Muntiacus muntjak vaginalis, 2n = 6,7) and identified 35 conserved chromosomal segments. Results from this study show that most of the sheep acrocentric chr...


    pub_type: 杂志文章


    authors: Burkin DJ,Yang F,Broad TE,Wienberg J,Hill DF,Ferguson-Smith MA

    更新日期:1997-11-15 00:00:00

  • Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin.

    abstract::The adrenoleukodystrophy-related gene (ALDR, ABCD2) is a candidate modifier gene and a potential therapeutic target for X-linked adrenoleukodystrophy (ALD), a severe neurodegenerative disease. The ALDR gene is the closest homologue of the ALD gene, which encodes a peroxisomal ABC transporter involved in the catabolism...


    pub_type: 杂志文章


    authors: Pujol A,Troffer-Charlier N,Metzger E,Chimini G,Mandel JL

    更新日期:2000-11-15 00:00:00

  • X-linked recessive atrophic macular degeneration from RPGR mutation.

    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...


    pub_type: 杂志文章


    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

  • MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia.

    abstract::Oncogenic hypophosphatemic osteomalacia (OHO) is characterized by a renal phosphate leak, hypophosphatemia, low-serum calcitriol (1,25-vitamin-D3), and abnormalities in skeletal mineralization. Resection of OHO tumors results in remission of the symptoms, and there is evidence that a circulating phosphaturic factor pl...


    pub_type: 杂志文章


    authors: Rowe PS,de Zoysa PA,Dong R,Wang HR,White KE,Econs MJ,Oudet CL

    更新日期:2000-07-01 00:00:00

  • Contig assembly of bacterial artificial chromosome clones through multiplexed fluorescence-labeled fingerprinting.

    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...


    pub_type: 杂志文章


    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

  • Transposition, amplification, and divergence in the origin of the DNF15 loci, a polymorphic repetitive sequence family on chromosomes 1 and 3.

    abstract::The loci DNF15S1 and DNF15S2 are members of a small repetitive sequence family at discrete chromosomal locations, namely, 1p36 and 3p21, respectively. Studies of the structure, arrangement, and interrelations of the family suggest that the single copy on chromosome 3 is the original member and that this gave rise to t...


    pub_type: 杂志文章


    authors: Welch HM,Darby JK,Pilz AJ,Ko CM,Carritt B

    更新日期:1989-10-01 00:00:00

  • The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.

    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...


    pub_type: 杂志文章


    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

  • The 2p21 deletion syndrome: characterization of the transcription content.

    abstract::The vast majority of small-deletion syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria,...


    pub_type: 杂志文章


    authors: Parvari R,Gonen Y,Alshafee I,Buriakovsky S,Regev K,Hershkovitz E

    更新日期:2005-08-01 00:00:00

  • Detection of single DNA base mutations with mismatch repair enzymes.

    abstract::A novel method for identifying DNA point mutations has been developed by using mismatch repair enzymes. The high specificity of the Escherichia coli MutY protein has permitted the development of a reliable and sensitive method for the detection and characterization of point mutations in the human genome. The MutY prot...


    pub_type: 杂志文章


    authors: Lu AL,Hsu IC

    更新日期:1992-10-01 00:00:00

  • Tandem arrangement of the closely linked desmoglein genes on human chromosome 18.

    abstract::The desmogleins, together with the desmocollins, both members of the cadherin superfamily, are the adhesive proteins of the desmosome type of cell junction, characteristically found in epithelial cells. Three different human desmoglein isoforms are encoded by separate genes (DSG1, DSG2, and DSG3) located on chromosome...


    pub_type: 杂志文章


    authors: Simrak D,Cowley CM,Buxton RS,Arnemann J

    更新日期:1995-01-20 00:00:00

  • Characterization of the mouse apolipoprotein Apoa-1/Apoc-3 gene locus: genomic, mRNA, and protein sequences with comparisons to other species.

    abstract::In this report we present the genomic, cDNA, and predicted protein sequences for mouse apolipoproteins A-I and CIII, as well as sequence comparisons with other species. The genes for these apolipoproteins are within 2.5 kb of each other and convergently transcribed. The almost 9 kb of genomic sequence presented extend...


    pub_type: 杂志文章


    authors: Januzzi JL,Azrolan N,O'Connell A,Aalto-Setälä K,Breslow JL

    更新日期:1992-12-01 00:00:00

  • Afrotheria genome; overestimation of genome size and distinct chromosome GC content revealed by flow karyotyping.

    abstract::Afrotheria genome size is reported to be over 50% larger than that of human, but we show that this is a gross overestimate. Although genome sequencing in Afrotheria is not complete, extensive homology with human has been revealed by chromosome painting. We provide new data on chromosome size and GC content in four Afr...


    pub_type: 杂志文章


    authors: Kasai F,O'Brien PC,Ferguson-Smith MA

    更新日期:2013-11-01 00:00:00

  • Comparative analysis of neurological disorders focuses genome-wide search for autism genes.

    abstract::The behaviors of autism overlap with a diverse array of other neurological disorders, suggesting common molecular mechanisms. We conducted a large comparative analysis of the network of genes linked to autism with those of 432 other neurological diseases to circumscribe a multi-disorder subcomponent of autism. We leve...


    pub_type: 杂志文章


    authors: Wall DP,Esteban FJ,Deluca TF,Huyck M,Monaghan T,Velez de Mendizabal N,Goñí J,Kohane IS

    更新日期:2009-02-01 00:00:00

  • Sequence context analysis in the mouse genome: single nucleotide polymorphisms and CpG island sequences.

    abstract::A genome-wide view of sequence mutability in mice is still limited, although biologists usually assume the same scenario for mice as for humans. In this study, we examined the sequence context in the local environment of 482,528 mouse single nucleotide polymorphisms (SNPs). We found that CpG-containing short sequences...


    pub_type: 杂志文章


    authors: Zhao Z,Zhang F

    更新日期:2006-01-01 00:00:00

  • Linkage mapping around the ragged (Ra) and wasted (wst) loci on distal mouse chromosome 2.

    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...


    pub_type: 杂志文章


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

    更新日期:1994-03-01 00:00:00

  • Sequence of the coding region of the bovine fibrillin cDNA and localization to bovine chromosome 10.

    abstract::We report the cDNA sequence for the bovine gene for fibrillin corresponding to the human gene, fibrillin 1 (FBN1), and the localization of the gene to bovine chromosome 10 (syntenic group U5). The identity between the human and bovine sequences is 97.8% at the amino acid level and 92% at the nucleotide level. The bovi...


    pub_type: 杂志文章


    authors: Tilstra DJ,Li L,Potter KA,Womack J,Byers PH

    更新日期:1994-09-15 00:00:00