Abstract:
:Palmitoyl-protein thioesterase (PPT) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. We recently reported mutations in PPT in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodegenerative disorder (J. Vesa et al., 1995, Nature 376: 584-587). INCL is characterized by the accumulation of proteolipid storage material in brain and other tissues, suggesting that the disease is a consequence of abnormal catabolism of acylated proteins. In the current paper, we report the sequence of the human PPT cDNA and the structure of the human PPT gene. The cDNA predicts a protein of 306 amino acids that contains a 25-amino-acid signal peptide, three N-linked glycosylation sites, and consensus motifs characteristic of thioesterases. Northern analysis of a human tissue blot revealed ubiquitous expression of a single 2.5-kb mRNA, with highest expression in lung, brain, and heart. The human PPT gene spans 25 kb and is composed of seven coding exons and a large eighth exon, containing the entire 3'-untranslated region of 1388 bp. An Alu repeat and promoter elements corresponding to putative binding sites for several general transcription factors were identified in the 1060 nucleotides upstream of the transcription start site. The human PPT cDNA sequence and gene structure will provide the means for the identification of further causative mutations in INCL and facilitate genetic screening in selected high-risk populations.
journal_name
Genomicsjournal_title
Genomicsauthors
Schriner JE,Yi W,Hofmann SLdoi
10.1006/geno.1996.0292subject
Has Abstractpub_date
1996-06-15 00:00:00pages
317-22issue
3eissn
0888-7543issn
1089-8646pii
S0888-7543(96)90292-Xjournal_volume
34pub_type
杂志文章相关文献
GENOMICS文献大全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
pub_type: 杂志文章
doi:10.1006/geno.1993.1383
更新日期:1993-09-01 00:00:00
abstract::Fishes possess more genes than other vertebrates, possibly because of a genome duplication event during the evolution of the teleost (ray-finned) fish lineage. To further explore this idea, we cloned five genes encoding phosphoinositide-specific phospholipase C-delta (PLC-delta), designated respectively PoPLC-deltas, ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2008.07.012
更新日期:2008-11-01 00:00:00
abstract::The promoter is a regulatory DNA region and important for gene transcriptional regulation. It is located near the transcription start site (TSS) upstream of the corresponding gene. In the post-genomics era, the availability of data makes it possible to build computational models for robustly detecting the promoters as...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2019.08.009
更新日期:2020-03-01 00:00:00
abstract::Vertebrate tissue inhibitors of metalloproteinases (TIMPs) regulate extracellular matrix metalloproteinases and are thus involved in a wide variety of developmental and physiological processes. By identifying cDNAs of a transcript detected within an intron of the Drosophila synapsin gene we have cloned the Drosophila ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1999.5776
更新日期:1999-04-15 00:00:00
abstract::Authentic cDNAs encoding the activator protein for acid beta-glucosidase (EC3.2.1.45), co-beta-glucosidase, were cloned from the pCD and lambda gt11 human cDNA libraries. Initial screening with oligonucleotide mixtures encoding amino acid sequences of co-beta-glucosidase identified partial cDNAs which were used to obt...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(89)90014-1
更新日期:1989-10-01 00:00:00
abstract::Despite antibiotic therapy and vaccination programs, microbial diseases continue to be the leading cause of morbidity and mortality worldwide. The genetic basis of the host response to infection is complex, and its understanding has been facilitated through the study of mouse models of human infectious diseases. Genet...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.5116
更新日期:1998-01-15 00:00:00
abstract::The Alu repeat sequence is estimated to account for 5% of human genomic DNA. The precise relationship of Alu sequences to human fully spliced cDNA has yet to be determined, although many new protocols for cloning cDNAs either depend on the presence of Alus or--more usually--rely on their absence in a population of mes...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1090
更新日期:1995-06-10 00:00:00
abstract::Mefloquine is associated with adverse neurological effects that are mediated via unknown mechanisms. Recent in vitro studies have shown that mefloquine disrupts neuronal calcium homeostasis via liberation of the endoplasmic reticulum (ER) store and induction of calcium influx across the plasma membrane. In the present...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2005.07.004
更新日期:2005-11-01 00:00:00
abstract::Using an interspecies backcross, we have mapped the HOX-5 and surfeit (surf) gene clusters within the proximal portion of mouse chromosome 2. While the HOX-5 cluster of homeobox-containing genes has been localized to chromosome 2, bands C3-E1, by in situ hybridization, its more precise position relative to the genes a...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(90)90499-k
更新日期:1990-04-01 00:00:00
abstract::We have isolated cDNA clones for the gene, termed GPX1, encoding the major human selenoprotein, glutathione peroxidase. Sequence analysis confirmed previous findings that the unusual amino acid seleno-cysteine is encoded by the opal terminator codon UGA. Southern blot analysis of human genomic DNA with the GPX1 cDNA s...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(90)90566-d
更新日期:1990-02-01 00:00:00
abstract::To facilitate the practical application of highly efficient semiautomated methods for general application in genomic analyses, we have developed a fluorescence-based microsatellite marker resource. Ninety highly polymorphic microsatellite markers were combined to provide a rapid, accurate, and highly efficient initial...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1628
更新日期:1994-11-15 00:00:00
abstract::We describe the isolation and characterization of a human gene (CLCN3) and its murine homologue (Clcn3) sharing significant sequence and structural similarities with all previously identified members of the voltage-gated chloride channel (ClC) family. This gene is expressed primarily in tissues derived from neuroectod...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1015
更新日期:1995-05-01 00:00:00
abstract::In this study we describe a modification of the bisulfite genomic sequencing protocol that enables detection of methylation from as few as five diploid cells from preimplantation mouse embryos. We have used bisulfite genomic sequencing to study the methylation profile of the putative imprinting element upstream of the...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1998.5371
更新日期:1998-07-15 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
pub_type: 杂志文章
doi:10.1016/0888-7543(91)90199-o
更新日期:1991-08-01 00:00:00
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...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1213
更新日期:1995-09-01 00:00:00
abstract::We have isolated a human cDNA encoding a protein of 334 amino acids that shows 96% identity in amino acid sequence to murine cytosolic malate dehydrogenase. Heart and skeletal muscle expressed this gene most highly among the adult human tissues examined by Northern blot analysis. By fluorescence in situ hybridization,...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0087
更新日期:1996-02-15 00:00:00
abstract::Use of mixed models is in the spotlight as an emerging method for genome-wide association studies (GWASs). This study investigated the statistical power for identifying nucleotide variants associated with quantitative traits using the mixed model methodology. Quantitative traits were simulated through design of herita...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2014.11.001
更新日期:2015-01-01 00:00:00
abstract::Four allelic forms of serum plasminogen (PLG) were detected in baboons (Papio hamadryas Linneaus 1758) by isoelectric focusing and were determined to be inherited as autosomal codominant traits. Linkage analysis of data from 179 progeny and their parents revealed that PLG is tightly linked (lod score = 30.20) to the g...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(91)90016-8
更新日期:1991-12-01 00:00:00
abstract::The human ubiquitin-homology domain protein PIC1 interacts with the acute promyelocytic leukemia protein PML, and both proteins form part of the large, nuclear, multiprotein complexes known as PML nuclear bodies. The normal punctate immunohistochemical staining pattern of these complexes is disrupted by viral infectio...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.5091
更新日期:1998-01-01 00:00:00
abstract::Nitric oxide (NO) is an important molecular messenger regulating the functions of a wide variety of cells and tissues. NO is synthesized from L-arginine by a variety of isoforms of the enzyme nitric oxide synthase (NOS). We have used Southern blotting analysis on DNAs obtained from a panel of human-rodent hybrid cell ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1286
更新日期:1994-05-15 00:00:00
abstract::The proximal albino deletions identify several functional regions on mouse Chromosome 7 critical for differentiation of mesoderm (mesd), development of the hypothalamus neuroendocrine lineage (nelg), and function of the liver (hsdr1). Using comparative mapping and genomic sequence analysis, we have identified four nov...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6466
更新日期:2001-02-15 00:00:00
abstract::We report for the first time the fragmented mitochondrial (mt) genomes of two Pedicinus species: Pedicinus obtusus and Pedicinus badii, and compared them with the lice of humans and chimpanzees. Despite being congeneric, the two monkey lice are distinct from each other in mt karyotype. The variation in mt karyotype be...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.09.005
更新日期:2020-11-01 00:00:00
abstract::Amaranth has been proposed as an exceptional alternative for food security and climate change mitigation. Information about the distribution, abundance, or specificity of miRNAs in amaranth species is scare. Here, small RNAs from seedlings under control, drought, heat, and cold stress conditions of the Amaranthus hypo...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.11.027
更新日期:2021-01-01 00:00:00
abstract::We have isolated and characterized genomic clones containing the mouse myelin/oligodendrocyte glycoprotein (MOG) gene. It spans a region of 12.5 kb and consists of eight exons. Its exon-intron structure differs from that of classical MHC-class I genes, with which it is linked in the mouse genome. Nucleotide sequencing...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1456
更新日期:1994-09-01 00:00:00
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...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1998.5317
更新日期:1998-06-15 00:00:00
abstract::Of 311 expressed sequenced tags (ESTs) mapped to single human chromosomes by analysis of a monochromosome somatic cell hybrid panel, 29 were localized to chromosome 3. Analysis of somatic cell hybrid lines containing different regions of chromosome 3 has enabled the regional assignment of these 29 ESTs to 13 of 23 int...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1998.5484
更新日期:1998-11-01 00:00:00
abstract::Thirteen moderately to highly informative microsatellite DNA polymorphisms based on (dC-dA)n.(dG-dT)n repeats were mapped to segments of human chromosome 5 using both linkage analysis and a panel of somatic cell hybrids which contained rearranged chromosomes. The markers were distributed throughout most of the length ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(91)90077-r
更新日期:1991-11-01 00:00:00
abstract::On the basis of previous observations in chromosomes 21 and 22, we hypothesize that there is a tissue-specific organization of cardiovascular gene transcripts in the human genome. To examine the distribution of heart-derived transcripts, we assigned a nonredundant set of 4628 fetal and 3574 adult known and uncharacter...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(03)00008-9
更新日期:2003-05-01 00:00:00
abstract::We report the mapping of the human gene MPB1 (c-myc promoter binding protein), a recently identified gene regulatory protein. MPB1 binds to the c-myc P2 promoter and exerts a negative regulatory role on c-myc transcription. Since exogenous expression from transfection of the MPB1 gene suppresses the tumorigenic proper...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.4499
更新日期:1997-02-01 00:00:00
abstract::Through an exhaustive homology-based approach, coupled with manual efforts, we annotated and characterized 128 sensory neuron membrane proteins (SNMPs) from genomes and transcriptomes of 22 coleopteran species, with 107 novel candidates. Remarkably, we discovered, for the first time, a novel SNMP group, defined as Gro...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.03.005
更新日期:2020-07-01 00:00:00