Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).

Abstract:

:We describe here a new type of X-linked liver glycogen storage disease. The main symptoms include liver enlargement and growth retardation. The clinical and biochemical abnormalities of this glycogenosis are similar to those of classical X-linked liver glycogenosis due to phosphorylase kinase deficiency (XLG). However, in contrast to patients with XLG, the patients described here have no reduced phosphorylase kinase activity in erythrocytes and leukocytes, and no enzyme deficiency could be found. Linkage analysis of four families with this X-linked type of liver glycogenosis assigned the disease gene to Xp22. Lod scores obtained with the markers DXS987, DXS207, and DXS999 were 3.97, 2.71, and 2.40, respectively, all at 0% recombination. Multipoint linkage analysis localized the disease gene between DXS143 and DXS989 with a maximum lod score of 4.70 at theta = 0, relative to DXS987. As both the classical XLG gene and the liver alpha-subunit of PHK (PHKA2) are also located in Xp22, this variant type of XLG may be allelic to classical XLG, and both diseases may be caused by mutations in PHKA2. Therefore, we propose to classify XLG as XLG type I (the classical type of XLG) and XLG type II (the variant type of XLG).

journal_name

Genomics

journal_title

Genomics

authors

Hendrickx J,Coucke P,Hors-Cayla MC,Smit GP,Shin YS,Deutsch J,Smeitink J,Berger R,Lee P,Fernandes J

doi

10.1006/geno.1994.1322

subject

Has Abstract,Author List Incomplete

pub_date

1994-06-01 00:00:00

pages

620-5

issue

3

eissn

0888-7543

issn

1089-8646

pii

S088875438471322X

journal_volume

21

pub_type

杂志文章

相关文献

GENOMICS文献大全
  • Use of an intron polymorphism to localize the tropoelastin gene to mouse chromosome 5 in a region of linkage conservation with human chromosome 7.

    abstract::The complete coding sequence for mouse tropoelastin was obtained from overlapping reverse transcriptase polymerase chain reaction (PCR) amplimers. These cDNA fragments were derived from mouse tropoelastin mRNA using PCR oligomers complementary to conserved domains within rat tropoelastin mRNA. A comparison of coding d...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1994.1467

    authors: Wydner KS,Sechler JL,Boyd CD,Passmore HC

    更新日期:1994-09-01 00:00:00

  • A class III myosin expressed in the retina is a potential candidate for Bardet-Biedl syndrome.

    abstract::Class III myosins are actin-based motors with amino-terminal kinase domains. Expression of these motors is highly enhanced in retinal photoreceptors. As mutations in the gene encoding NINAC, a Drosophila melanogaster class III myosin, cause retinal degeneration, human homologs of this gene are potential candidates for...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.2002.6749

    authors: Dosé AC,Burnside B

    更新日期:2002-05-01 00:00:00

  • Human phenol sulfotransferase STP2 gene: molecular cloning, structural characterization, and chromosomal localization.

    abstract::Sulfonation is an important pathway in the biotransformation of many drugs, xenobiotics, neurotransmitters, and steroid hormones. The thermostable (TS) form of phenol sulfotransferase (PST) preferentially catalyzes the sulfonation of "simple" planar phenols, and levels of activity of TS PST in human tissues are contro...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0216

    authors: Her C,Raftogianis R,Weinshilboum RM

    更新日期:1996-05-01 00:00:00

  • Mouse lipocortin I gene structure and chromosomal assignment: gene duplication and the origins of a gene family.

    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

    pub_type: 杂志文章

    doi:10.1016/0888-7543(91)90321-5

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

    更新日期:1991-06-01 00:00:00

  • Genome-wide analysis of expression modes and DNA methylation status at sense-antisense transcript loci in mouse.

    abstract::The functionality of sense-antisense transcripts (SATs), although widespread throughout the mammalian genome, is largely unknown. Here, we analyzed the SATs expression and its associated promoter DNA methylation status by surveying 12 tissues of mice to gain insights into the relationship between expression and DNA me...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2010.08.007

    authors: Watanabe Y,Numata K,Murata S,Osada Y,Saito R,Nakaoka H,Yamamoto N,Watanabe K,Kato H,Abe K,Kiyosawa H

    更新日期:2010-12-01 00:00:00

  • Searching for disease susceptibility variants in structured populations.

    abstract::Data for genome-wide association studies are being collected for a myriad of phenotypes. Many of these studies do not include control samples selected to reflect ancestry similar to the case samples. At the same time "control databases" are becoming available to be utilized as a common resource. These data are often g...

    journal_title:Genomics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ygeno.2008.04.004

    authors: Roeder K,Luca D

    更新日期:2009-01-01 00:00:00

  • Dinucleotide repeat loci contribute highly informative genetic markers to the human chromosome 2 linkage map.

    abstract::Microsatellite repeat loci can provide informative markers for genetic linkage. Currently, the human chromosome 2 genetic linkage map has very few highly polymorphic markers. Being such a large chromosome, it will require a large number of informative markers for the dense coverage desired to allow disease genes to be...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1993.1238

    authors: Todd S,Sherman SL,Naylor SL

    更新日期:1993-06-01 00:00:00

  • Less is more, except when less is less: Studying joint effects.

    abstract::Most diseases are complex in that they are caused by the joint action of multiple factors, both genetic and environmental. Over the past few decades, the mathematical convenience of logistic regression has served to enshrine the multiplicative model, to the point where many epidemiologists believe that departure from ...

    journal_title:Genomics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ygeno.2008.06.002

    authors: Weinberg CR

    更新日期:2009-01-01 00:00:00

  • Characterization of the complete mitochondrial genome of Uca lacteus and comparison with other Brachyuran crabs.

    abstract::Brachyuran crabs comprise the most species-rich clade among the crustacean order Decapoda and are divided into several major superfamilies. However, the monophyly of the superfamilies Ocypodoidea and Grapsoidea in their current compositions within the Brachyura remains inconclusive. In this study, the complete mitocho...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2019.06.004

    authors: Wang Z,Shi X,Guo H,Tang D,Bai Y,Wang Z

    更新日期:2020-01-01 00:00:00

  • A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresis.

    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

    pub_type: 杂志文章

    doi:10.1016/0888-7543(91)90216-2

    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

  • A comparison of gene expression profiles produced by SAGE, long SAGE, and oligonucleotide chips.

    abstract::A comparison study of short SAGE versus GeneChip and long SAGE was conducted to determine if data were interchangeable between the techniques. Although SAGE and Affymetrix chip expression levels showed a significant correlation using the set of genes for which there was reliable and unambiguous mapping from tag-to-gen...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2004.06.014

    authors: Lu J,Lal A,Merriman B,Nelson S,Riggins G

    更新日期:2004-10-01 00:00:00

  • Frequent appearance of novel protein-coding sequences by frameshift translation.

    abstract::Genomic duplication, followed by divergence, contributes to organismal evolution. Several mechanisms, such as exon shuffling and alternative splicing, are responsible for novel gene functions, but they generate homologous domains and do not usually lead to drastic innovation. Major novelties can potentially be introdu...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2006.06.009

    authors: Okamura K,Feuk L,Marquès-Bonet T,Navarro A,Scherer SW

    更新日期:2006-12-01 00:00:00

  • Chromosomal mapping of five mouse G protein gamma subunits.

    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

    pub_type: 杂志文章

    doi:10.1006/geno.1999.5763

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

    更新日期:1999-04-01 00:00:00

  • Expression analysis of microRNAs and their target mRNAs of testes with high and low sperm motility in domestic pigeons (Columba livia).

    abstract::Sperm motility is one of the most important indicators to evaluate poultry fertility. In order to explore key molecular regulation roles related to sperm motility, we employed testicular RNA sequencing of pigeon. A total of 705 known and 385 novel microRNAs were identified. Compared with the low sperm motility group, ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2020.12.024

    authors: Yin Z,Xu X,Tan Y,Cao H,Zhou W,Dong X,Mao H

    更新日期:2021-01-01 00:00:00

  • Epigenetic suppression of iNOS expression in human endothelial cells: A potential role of Ezh2-mediated H3K27me3.

    abstract:OBJECTIVE:Cytokines strongly induce expression of the inducible nitric oxide synthase (iNOS) in rodent but not in human endothelial cells. We recently identified NOS2 as a potential target of the histone methyltransferase enhancer of zeste homolog 2 which mediates trimethylation of histone 3 at lysine 27 (H3K27me3). M...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2016.02.002

    authors: Dreger H,Ludwig A,Weller A,Baumann G,Stangl V,Stangl K

    更新日期:2016-04-01 00:00:00

  • Clustering of hypervariable minisatellites in the proterminal regions of human autosomes.

    abstract::Six of the human minisatellites detected by DNA fingerprint probes have been localized by in situ hybridization to human metaphase chromosomes. These hypervariable loci are not dispersed at random in the human genome, but show preferential, though not exclusive, localization to terminal G-bands of human autosomes. Two...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(88)90127-9

    authors: Royle NJ,Clarkson RE,Wong Z,Jeffreys AJ

    更新日期:1988-11-01 00:00:00

  • Fingerprinting human chromosomes by polymerase chain reaction-mediated DNA amplification.

    abstract::We describe here a method for DNA fingerprinting of human chromosomes by Alu-polymerase chain reaction (PCR) amplification of DNA from monochromosomal hybrids, following digestion with restriction endonucleases. DNA digestion with restriction enzymes prior to PCR amplification reduces the total number of amplified fra...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/s0888-7543(05)80175-2

    authors: Sidhu MS,Helen BK,Athwal RS

    更新日期:1992-11-01 00:00:00

  • Molecular cloning and characterization of the mouse carboxyl ester lipase gene and evidence for expression in the lactating mammary gland.

    abstract::DNA hybridization was used to isolate a 2.04-kb cDNA encoding carboxyl ester lipase (CEL) from a mouse lactating mammary gland, lambda gt10 cDNA library. The cDNA sequence translated into a protein of 599 amino acids, including 20 amino acids of a putative signal peptide. Comparison of the deduced amino acid sequence ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1995.1221

    authors: Lidmer AS,Kannius M,Lundberg L,Bjursell G,Nilsson J

    更新日期:1995-09-01 00:00:00

  • Frequent DNA polymorphisms exist in inbred CBA/J and C3H/HeN mice.

    abstract::Although occasional DNA polymorphisms have been observed in inbred mice, CBA/J and C3H/HeN mice have two microsatellite alleles at over 1/3 of microsatellite loci tested. Since DNA polymorphisms were not detected in DBA/2J, C57BL/6J, and BALB/cJ, the frequency of microsatellite polymorphisms appears to be strain speci...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0592

    authors: Yuan B,Shum-Siu A,Lentsch EM,Hu LH,Hendler FJ

    更新日期:1996-11-15 00:00:00

  • Genomic structure of the locus associated with an insertional mutation in line 4 transgenic mice.

    abstract::In line 4 transgenic mice, six to eight copies of a 50-kb lambda recombinant clone are arranged in a head-to-tail tandem array on chromosome 3. Embryos homozygous for the transgene become arrested in their development on Day 5 of gestation shortly after implantation. The insertion site was cloned using a small segment...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(92)90216-f

    authors: Mark WH,Signorelli K,Blum M,Kwee L,Lacy E

    更新日期:1992-05-01 00:00:00

  • Integration of transcriptome and cistrome analysis identifies RUNX1-target genes involved in pancreatic cancer proliferation.

    abstract::The extremely high proliferation rate of tumor cells contributes to pancreatic cancer (PC) progression. Runt-related transcription factor 1(RUNX1), a key factor in hematopoiesis that was correlated with tumor progression. However, the role of RUNX1 in PC proliferation was still unclear. We found that RUNX1 was signifi...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2020.11.010

    authors: Liu S,Xie F,Gan L,Peng T,Xu X,Guo S,Fu W,Wang Y,Ouyang Y,Yang J,Wang X,Zheng Y,Zhang J,Wang H

    更新日期:2020-11-01 00:00:00

  • Bioinformatic analysis of regulation of natural antisense transcripts by transposable elements in human mRNA.

    abstract::Non-coding RNA is no longer considered to be "junk" DNA, based on evidence uncovered in recent decades. In particular, the important role played by natural antisense transcripts (NATs) in regulating the expression of genes is receiving increasing attention. However, the regulatory mechanisms of NATs remain incompletel...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2018.01.011

    authors: Jung J,Lee S,Cho HS,Park K,Ryu JW,Jung M,Kim J,Kim H,Kim DS

    更新日期:2019-03-01 00:00:00

  • YAC contig organization and CpG island analysis in Xq28.

    abstract::One hundred nineteen YACs were assembled into 6 contigs spanning about 7.1 Mb of Xq28. The contigs were formatted with 65 STSs and 136 hybridization probes and were extensive enough to be aligned and oriented by published genetic linkage and somatic cell hybrid panel data. Selected YACs from the entire region were map...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1994.1592

    authors: Palmieri G,Romano G,Ciccodicola A,Casamassimi A,Campanile C,Esposito T,Cappa V,Lania A,Johnson S,Reinbold R

    更新日期:1994-11-01 00:00:00

  • XY sex reversal associated with a nonsense mutation in SRY.

    abstract::Sex determination in humans is mediated through the expression of a testis-determining gene on the Y chromosome. In humans, a candidate gene for the testis-determining factor (TDF) that encodes a protein with a putative DNA-binding motif and has been isolated is termed SRY. Here we describe an XY sex-reversed female w...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(92)90164-n

    authors: McElreavey KD,Vilain E,Boucekkine C,Vidaud M,Jaubert F,Richaud F,Fellous M

    更新日期:1992-07-01 00:00:00

  • Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes.

    abstract::Glomerulopathy with fibronectin deposits (GFND, MIM 601894) is an autosomal dominant kidney disease that leads to terminal renal failure at a median age of 47 years. It represents a distinct entity of membranoproliferative glomerulonephritis (MPGN) type III and is characterized by the unique feature of massive glomeru...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.2000.6292

    authors: Vollmer M,Kremer M,Ruf R,Miot S,Nothwang HG,Wirth J,Otto E,Krapf R,Hildebrandt F

    更新日期:2000-09-01 00:00:00

  • Knockdown of Gh_A05G1554 (GhDHN_03) and Gh_D05G1729 (GhDHN_04) Dehydrin genes, Reveals their potential role in enhancing osmotic and salt tolerance in cotton.

    abstract::In this investigation, whole-genome identification and functional characterization of the cotton dehydrin genes was carried out. A total of 16, 7, and 7 dehydrin proteins were identified in G. hirsutum, G. arboreum and G. raimondii, respectively. Through RNA sequence data and RT-qPCR validation, Gh_A05G1554 (GhDHN_03)...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2019.11.003

    authors: Kirungu JN,Magwanga RO,Pu L,Cai X,Xu Y,Hou Y,Zhou Y,Cai Y,Hao F,Zhou Z,Wang K,Liu F

    更新日期:2020-03-01 00:00:00

  • The Sp4H deletion may contain a new locus essential for postimplantation development.

    abstract::Sp4H is a semi-dominant mutation that maps to mouse chromosome 1. Heterozygous mice exhibit white spotting of the belly, whereas the fate of the homozygous embryos is unknown. We have previously shown that the entire coding region of the Pax3 gene is deleted in the Sp4H mutant. In this study, we have analyzed the fate...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0267

    authors: Fleming J,Pearce A,Brown SD,Steel KP

    更新日期:1996-06-01 00:00:00

  • Random forests for genomic data analysis.

    abstract::Random forests (RF) is a popular tree-based ensemble machine learning tool that is highly data adaptive, applies to "large p, small n" problems, and is able to account for correlation as well as interactions among features. This makes RF particularly appealing for high-dimensional genomic data analysis. In this articl...

    journal_title:Genomics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ygeno.2012.04.003

    authors: Chen X,Ishwaran H

    更新日期:2012-06-01 00:00:00

  • Contrast features of CpG islands in the promoter and other regions in the dog genome.

    abstract::The recent release of the domestic dog genome provides us with an ideal opportunity to investigate dog-specific genomic features. In this study, we performed a systematic analysis of CpG islands (CGIs), which are often considered gene markers, in the dog genome. Relative to the human and mouse genomes, the dog genome ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2009.04.007

    authors: Han L,Zhao Z

    更新日期:2009-08-01 00:00:00

  • Genomic diversity and selection sweeps identified in Indian swamp buffaloes reveals it's uniqueness with riverine buffaloes.

    abstract::The present investigation was focused to study genomic diversity of Indian swamp buffalo populations through reduced representation approach (ddRAD). The heterozygosity (FST) among the swamp buffaloes was 0.11 between Assam and Manipuri; 0.20 between swamp (Manipuri) and riverine buffaloes; 0.30 between swamp (Manipur...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2020.01.010

    authors: Ravi Kumar D,Joel Devadasan M,Surya T,Vineeth MR,Choudhary A,Sivalingam J,Kataria RS,Niranjan SK,Tantia MS,Verma A

    更新日期:2020-05-01 00:00:00