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 of very-long-chain fatty acids. Administration of fenofibrate upregulates ALDR expression in rodent liver. As a step toward understanding ALDR transcriptional regulation, the mouse and human 5' regions were characterized. The human and mouse genes share a 500-bp conserved region that contains potential Sp1- and AP-2-binding sites but no TATA box. Analysis of the 5'-flanking region of ALDR using a luciferase reporter system revealed that 1.3 kb of human or mouse 5'-upstream region has functional promoter activity. In these transfection experiments, promoter activity of both human and mouse genes could be upregulated by 9-cis-retinoic acid and forskolin, while no effect of PPARalpha could be detected.
journal_name
Genomicsjournal_title
Genomicsauthors
Pujol A,Troffer-Charlier N,Metzger E,Chimini G,Mandel JLdoi
10.1006/geno.2000.6367subject
Has Abstractpub_date
2000-11-15 00:00:00pages
131-9issue
1eissn
0888-7543issn
1089-8646pii
S0888-7543(00)96367-5journal_volume
70pub_type
杂志文章相关文献
GENOMICS文献大全abstract::DNA N6-methyladenine (6 mA) is an epigenetic modification that plays a vital role in a variety of cellular processes in both eukaryotes and prokaryotes. Accurate information of 6 mA sites in the Rosaceae genome may assist in understanding genomic 6 mA distributions and various biological functions such as epigenetic i...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.09.054
更新日期:2020-10-01 00:00:00
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
更新日期:2020-11-01 00:00:00
abstract::A cluster of genes coding for proteins of the extracellular matrix (ECM) containing sequence motifs essential for integrin-receptor interactions is located on HSA4q21 and on BTA6, within the critical region of a quantitative trait locus (QTL) affecting milk protein production. Genes within this cluster are involved in...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2004.03.005
更新日期:2004-08-01 00:00:00
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
更新日期:2020-05-01 00:00:00
abstract::p26, a small heat shock protein, is thought to protect Artemia embryos from stress during encystment and diapause. Full-length p26 cDNAs were compared and used to determine phylogenetic relationships between several Artemia species. The alpha-crystallin domain of p26 was the most conserved region of the protein and p2...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2006.02.008
更新日期:2006-08-01 00:00:00
abstract::Cardiac hypertrophy is an important risk factor for cardiac morbidity and mortality. To unravel the underlying pathogenic genetic pathways, we hybridized left ventricular RNA from Transverse Aortic Constriction mice at 48 h, 1 week, and 2, 3, and 8 weeks after surgery to microarrays containing a 15K fetal cDNA collect...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2006.04.012
更新日期:2006-10-01 00:00:00
abstract::A gene for the autosomal recessive kidney disorder juvenile nephronophthisis (NPH) is located on chromosome 2q between markers D2S1893 and D2S1888. Recently, the presence of large homozygous deletions was described in the majority of NPH patients. We constructed an integrated YAC/PAC contig of 54 markers and 30 PAC cl...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.5102
更新日期:1998-01-15 00:00:00
abstract::We have analyzed tumor and lymphocyte DNA from six breast cancer patients by one- and two-dimensional DNA fingerprinting using micro- and minisatellite core probes to estimate the extent and nature of DNA alterations in tumors. Both approaches were compared regarding sensitivity in genome analysis. We find that the nu...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1284
更新日期:1993-07-01 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::In response to nutrient deprivation, the ubiquitous Gram-negative soil bacterium Myxococcus xanthus undergoes a well-characterized developmental response, resulting in the formation of a multicellular fruiting body. The center of the fruiting body consists of myxospores; surrounding this structure are rod-shaped perip...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2019.09.008
更新日期:2020-03-01 00:00:00
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
更新日期:1999-04-01 00:00:00
abstract::Perilipin 1 (PLIN1) protein, also known as lipid droplet-associated protein, is encoded by the PLIN1 gene and is able to anchor itself to the membranes of lipid droplets. The phosphorylation of PLIN1 is critical for the mobilization of fat in adipose tissue and plays an important role in regulating lipolysis and lipid...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.01.012
更新日期:2020-05-01 00:00:00
abstract::Physical maps are important resources both in sequencing and in functional analyses of large genomes. Global contig-building approaches are regarded to be more efficient relative to the cumulative outcome of scattered and more localized physical mapping studies accompanying positional cloning. This work is part of an ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1999.5973
更新日期:1999-11-15 00:00:00
abstract::The human gene encoding the muscle-specific beta-enolase has been isolated. The beta-enolase gene was mapped to chromosome 17 by analysis of a panel of rodent-human somatic cell hybrids. The gene was further localized to the short arm and tentatively to the region 17pter-p11 by analysis of cell hybrids and transfectan...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(90)90467-9
更新日期:1990-01-01 00:00:00
abstract::Pulmonary surfactant consists of a complex mixture of phospholipids and several proteins essential to normal respiratory function. Two of the surfactant proteins, SP-A and SP-D, appear to have lectin-like activity relevant to the local phagocytic defense. Using polymerase chain reaction (PCR)-based somatic cell hybrid...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1324
更新日期:1993-08-01 00:00:00
abstract::Single nucleotide polymorphism (SNP) interactions can explain the missing heritability of common complex diseases. Many interaction detection methods have been proposed in genome-wide association studies, and they can be divided into two types: population-based and family-based. Compared with population-based methods,...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2018.07.014
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:Copy number variations (CNV) are regional deviations from the normal autosomal bi-allelic DNA content. While germline CNVs are a major contributor to genomic syndromes and inherited diseases, the majority of cancers accumulate extensive "somatic" CNV (sCNV or CNA) during the process of oncogenetic transforma...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.05.008
更新日期:2020-09-01 00:00:00
abstract::There is a compelling need to identify novel genetic variants for papillary thyroid cancer (PTC) susceptibility. The Cancer Genome Atlas (TCGA) data showed associations between SPP1 and SPARC mRNA overexpression and aggressive behaviors of PTC, which prompted us to assess potential associations between genetic variant...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.09.018
更新日期:2020-11-01 00:00:00
abstract::Genotypes and allelic frequencies of TPH2, 5-HTTLPR, the 5-HTT (SLC6A4) intron 2 variable-number tandem repeat (VNTR) region, and the MAOA VNTR region were determined in brain-stem samples of 20 "genuine" SIDS cases and compared with results obtained from 150 healthy controls. The SNP G1463A responsible for 80% functi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2008.01.010
更新日期:2008-06-01 00:00:00
abstract::The high-affinity receptor for interleukin-11 (IL-11) is composed of two subunits, IL-11 receptor alpha chain (IL-11R alpha) and gp130, the common subunit of the interleukin-6 (IL-6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor, and oncostatin M receptors. The IL-11 receptor-specific alpha chain sha...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0075
更新日期:1996-02-15 00:00:00
abstract::Small cell lung cancer (SCLC) has been associated with a deletion of the short arm of chromosome 3. One SCLC cell line, H748, has an interstitial deletion of chromosome 3p and shows allele loss for the DNF15S2 locus detected by the probe lambda H3. Conservation of DNF15S2 sequences in mouse indicated that this human g...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(89)90342-x
更新日期:1989-04-01 00:00:00
abstract::We have isolated and chromosomally fine-mapped 16 novel genes belonging to the human zinc finger Krüppel family (ZNF131-140, 142, 143, 148, 151, 154, and 155), including 1 of the GLI type (ZNF143) and 3 containing a KRAB (Krüppel-associated box) segment (ZNF133, 136, and 140). Based on their map position, several of t...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1040
更新日期:1995-05-20 00:00:00
abstract::Proteins with seven transmembrane segments (7TM) define a superfamily of receptors (7TM receptors) sharing the same topology: an extracellular N-terminus, three extramembranous loops on either side of the plasma membrane, and a cytoplasmic C-terminal tail. Upon ligand binding, cytoplasmic portions of the activated rec...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(95)80218-b
更新日期:1995-03-20 00:00:00
abstract::S-lac lectins are a family of soluble lactose-binding proteins thought to function in the control of cell growth. We now report the chromosomal mapping of two members of the family, termed L-14-I and L-14-II, to the q12-q13 region of human chromosome 22, suggesting the possibility of a cluster of genes for lactose-bin...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1078
更新日期:1993-02-01 00:00:00
abstract::We have identified a novel human gene, designated C1orf10, using modified differential display PCR. The C1orf10 gene, which spans 5 kb in length, is composed of three exons. The deduced protein contains 495 amino acids with one transmembrane domain. The amino acid sequence of C1orf10 is characterized by the presence o...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6344
更新日期:2000-11-01 00:00:00
abstract::The human IGH constant region spans 350 kb and includes nine genes and two pseudogenes. All of the constant region gene cluster has been cloned except for sequences between the IGHD and IGHG3 genes, between the IGHA1 and IGHG2 genes, and the 3' region downstream of the IGHA2 gene. The regions 3' of the IGHA genes, whi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0338
更新日期:1996-07-01 00:00:00
abstract::Recently, we reported genetic linkage in Pima Indians between the acute insulin response to an intravenous glucose challenge and the short tandem repeat marker D1S198, indicative of a genetic element in this region that controls the phenotypic variation in the first phase of insulin secretion. As a first step to isola...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.4504
更新日期:1997-01-15 00:00:00
abstract::The T-box is a strongly conserved protein domain, 174 to 186 amino acids in length, that binds DNA. Many genes from many species have been shown to encode T-box domain-containing proteins. Here we report the cloning and characterization of a novel T-box gene, TBX21. The human cDNA contains an open reading frame encodi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6361
更新日期:2000-11-15 00:00:00
abstract::Abnormal histone modifications (HMs) and transcription factors (TFs) can alter the expression of cancer-related genes to promote tumorigenesis. We studied the variations of 11 HMs and 2 TFs in human breast cancer cells (MCF-7) compared to human normal mammary epithelial cells (HMEC), and the effects of HMs/TFs in vari...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2019.05.026
更新日期:2020-01-01 00:00:00
abstract::Co-expression networks may provide insights into the patterns of molecular interactions that underlie cellular processes. To obtain a better understanding of miRNA expression patterns in gastric adenocarcinoma and to provide markers that can be associated with histopathological findings, we performed weighted gene cor...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2016.07.002
更新日期:2016-08-01 00:00:00