Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression.

abstract：:Biologic effects of androgen on target cells are mediated in part by transcriptional regulation of androgen-regulated genes (ARGs) by androgen receptor. Using serial analysis of gene expression (SAGE), we have identified a comprehensive repertoire of ARGs in LNCaP cells. One of the SAGE-derived tags exhibiting homolog...

journal_title：Genomics

authors： Xu LL,Shanmugam N,Segawa T,Sesterhenn IA,McLeod DG,Moul JW,Srivastava S

更新日期：2000-06-15 00:00:00

abstract：:Thirty-four random DNA probes from the terminal half of the human chromosome 4 short arm were further localized within 4pter----p15.1. A panel of somatic cell hybrid lines defining six chromosomal regions within 4pter----p15.1 was constructed using human cell lines containing translocation or deletion chromosomes. The...

journal_title：Genomics

authors： MacDonald ME,Anderson MA,Gilliam TC,Tranejaerg L,Carpenter NJ,Magenis E,Hayden MR,Healey ST,Bonner TI,Gusella JF

更新日期：1987-09-01 00:00:00

abstract：:The transcriptional organization of the region of the mouse X chromosome between the G6pd and the Fln1 genes was studied in detail, and it was compared with the syntenic region of the human chromosome. A cosmid contig of 250 kb was constructed by screening mouse cosmid libraries with probes for human genes and with wh...

journal_title：Genomics

authors： Rivella S,Tamanini F,Bione S,Mancini M,Herman G,Chatterjee A,Maestrini E,Toniolo D

更新日期：1995-08-10 00:00:00

abstract：:The objective of this study was to identify gene expression differences in blood differences in children with autism (AU) and autism spectrum disorder (ASD) compared to general population controls. Transcriptional profiles were compared with age- and gender-matched, typically developing children from the general popul...

journal_title：Genomics

authors： Gregg JP,Lit L,Baron CA,Hertz-Picciotto I,Walker W,Davis RA,Croen LA,Ozonoff S,Hansen R,Pessah IN,Sharp FR

更新日期：2008-01-01 00:00:00

abstract：:A genetic linkage study of the RFLPs identified by nine DNA probes localized to the pericentromeric region and long arm of chromosome 17 has been undertaken in 16 families with von Recklinghausen neurofibromatosis (NF1). Close linkage has been shown with the markers CRI-L946 (D17S36), CRI-L581 (D17S37), p17H8 (D17Z1),...

journal_title：Genomics

authors： Upadhyaya M,Sarfarazi M,Huson SM,Stephens K,Broadhead W,Harper PS

更新日期：1987-12-01 00:00:00

abstract：:Fine mapping followed by candidate gene analysis of erd - a canine hereditary retinal degeneration characterized by aberrant photoreceptor development - established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is p...

journal_title：Genomics

authors： Goldstein O,Kukekova AV,Aguirre GD,Acland GM

更新日期：2010-12-01 00:00:00

abstract：:Homeodomain transcription factors control cell fates during the development of all animals. The paired-like subfamily of homeodomain proteins has been particularly implicated in ocular development in different species. In this paper we report the cDNA sequence, genomic structure, localization, and expression data of a...

journal_title：Genomics

authors： Semina EV,Mintz-Hittner HA,Murray JC

更新日期：2000-01-15 00:00:00

abstract：:The sequence of 20,114 bp of DNA including the human glucose-6-phosphate dehydrogenase (G6PD) gene was determined. The region included a prominent CpG island, starting about 680 nucleotides upstream of the transcription start site, extending about 1050 nucleotides downstream of the start site, and ending just at the s...

journal_title：Genomics

authors： Chen EY,Cheng A,Lee A,Kuang WJ,Hillier L,Green P,Schlessinger D,Ciccodicola A,D'Urso M

更新日期：1991-07-01 00:00:00

abstract：:TR4 is a new member of the nuclear hormone receptor family. This receptor is highly conserved in rat and human, but an in-frame insertion of 19 amino acid residues in the amino-terminal (A/B) region was found in the human homolog, which we refer to as hTR4alpha1. By reverse transcription-PCR (RT-PCR) we have identifie...

journal_title：Genomics

authors： Yoshikawa T,DuPont BR,Leach RJ,Detera-Wadleigh SD

更新日期：1996-07-15 00:00:00

abstract：:The human genome harbors thousands of long terminal repeats (LTRs) that are derived from endogenous retroviruses and contain elements able to regulate the expression of neighboring cellular genes. We have investigated the ability of human endogenous retroviral (HERV)-K LTRs to provide transcriptional processing signal...

journal_title：Genomics

authors： Baust C,Seifarth W,Germaier H,Hehlmann R,Leib-Mösch C

更新日期：2000-05-15 00:00:00

abstract：:The RBM (RNA-binding motif) gene family on the human Y chromosome encodes proteins with an RNA-binding domain. Its exclusive expression in germ cells and its partial deletion in some azoospermic or severely oligospermic males provide evidence of a role for RBM genes in spermatogenesis. There are approximately 30 RBM g...

journal_title：Genomics

authors： Chai NN,Salido EC,Yen PH

更新日期：1997-10-15 00:00:00

abstract：:We isolated the human homologue, SUPT5H, of the yeast transcription factor, SPT5. The human homologue is 1088 aa long compared to 1063 aa for the yeast gene. SUPT5H maps to 19q13, near the ryanodine receptor. Like its family member, SUPT6H, and like yeast SPT5, SUPT5H has a very acidic 5' domain. Like its family membe...

journal_title：Genomics

authors： Chiang PW,Fogel E,Jackson CL,Lieuallen K,Lennon G,Qu X,Wang SQ,Kurnit DM

更新日期：1996-12-15 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

authors： Zhang WX,Yang SY

更新日期：2000-11-15 00:00:00

abstract：:Head and neck squamous cell carcinoma (HNSCC) is a malignant tumor of the upper aerodigestive tract. The loss and gain of miRNA function promote cancer development through various mechanisms. RNA sequencing (RNA-seq) and miRNAs sequencing data from the Cancer Genome Atlas (TCGA) was used to show the dysfunctional miRN...

journal_title：Genomics

authors： Wu ZH,Zhong Y,Zhou T,Xiao HJ

更新日期：2021-01-01 00:00:00

abstract：:The ADH7 gene encoding human Class IV (sigma) alcohol dehydrogenase (ADH) was cloned from a Caucasian genomic DNA library and characterized. It has nine exons and eight introns that span about 22 kb, and its intron insertion is identical to that of the other ADH genes (ADH1 to ADH5). The nucleotide sequences of the ex...

journal_title：Genomics

authors： Yokoyama H,Baraona E,Lieber CS

更新日期：1996-01-15 00:00:00

abstract：:Aneuploidy is a characteristic of the majority of human cancers, and recent work has suggested that mitotic checkpoint defects play a role in its development. To further explore this issue, we isolated a novel human gene, MAD2B (MAD2L2), which is homologous to the spindle checkpoint gene MAD2 (MAD2L1). We determined t...

journal_title：Genomics

authors： Cahill DP,da Costa LT,Carson-Walter EB,Kinzler KW,Vogelstein B,Lengauer C

更新日期：1999-06-01 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

authors： Chadwick BP,Frischauf AM

更新日期：1998-06-15 00:00:00

abstract：:LBR (lamin B receptor) is an integral protein of the inner nuclear membrane encoded by a gene on human chromosome 1q42.1. LBR has a nucleoplasmic, amino-terminal domain of approximately 200 amino acids followed by a carboxyl-terminal domain similar in sequence to yeast and plant sterol reductases. We have determined t...

journal_title：Genomics

authors： Holmer L,Pezhman A,Worman HJ

更新日期：1998-12-15 00:00:00

abstract：:The sequence of the human Gc gene, including 4228 base pairs of the 5'-flanking region and 8514 base pairs of the 3' flanking region (55,136 in total), was determined from five overlapping lambda phage clones. The sequence spans 42,394 base pairs from the cap site to the polyadenylation site, and it reveals that the g...

journal_title：Genomics

authors： Witke WF,Gibbs PE,Zielinski R,Yang F,Bowman BH,Dugaiczyk A

更新日期：1993-06-01 00:00:00

abstract：:The proximal end of mouse chromosome (Chr) 13 contains regions conserved on human chromosomes 1q42-q44, 6p23-p21, and 7p22-p13. This region also contains mutations that may be models for human disease, including beige (human Chediak-Higashi syndrome). An interspecific backcross of SB/Le and Mus spretus mice was used t...

journal_title：Genomics

authors： Perou CM,Perchellet A,Jago T,Pryor R,Kaplan J,Justice MJ

更新日期：1997-01-15 00:00:00

abstract：:The Duchenne muscular dystrophy locus is remarkable in that it shows a high mutation rate and the majority of mutations found are deletions. These deletions are generated as meiotic as well as mitotic events and occur preferentially in the central region of the gene. Nothing is known so far about the mechanisms involv...

journal_title：Genomics

authors： Love DR,England SB,Speer A,Marsden RF,Bloomfield JF,Roche AL,Cross GS,Mountford RC,Smith TJ,Davies KE

更新日期：1991-05-01 00:00:00

abstract：:We have identified a gene at chromosome band 19q13.1, which is closely related to MLL. MLL is located in a region of chromosome 11q23 that has partial synteny with chromosome 19q. We have named this gene at 19q13.1, MLL2. MLL2 encodes a protein that exhibits a high level of similarity to MLL over several important pro...

journal_title：Genomics

authors： FitzGerald KT,Diaz MO

更新日期：1999-07-15 00:00:00

abstract：:This study has investigated the transcriptional regulation of the Emr1 gene in murine macrophages and defined an enhancer element within the proximal promoter that is necessary for Emr1 expression in myeloid cells. This element consists of an extended purine-rich sequence (PuRS) of 83 consecutive purine residues conta...

journal_title：Genomics

authors： O'Reilly D,Addley M,Quinn C,MacFarlane AJ,Gordon S,McKnight AJ,Greaves DR

更新日期：2004-12-01 00:00:00

abstract：:Differential epigenetic modification by methylation of CpG dinucleotides is a candidate mechanism that may identify the alleles of imprinted genes and result in monoallelic expression of either the maternal or the paternal allele. Determination of the allelic methylation status of imprinted genes in the gametes and du...

journal_title：Genomics

authors： McDonald LE,Paterson CA,Kay GF

更新日期：1998-12-15 00:00:00

abstract：:Adipocyte triglyceride lipase (ATGL) and hormone-sensitive lipase (HSL) are intracellular lipases that mobilize triglycerides, the main energy source in mammals. Deletion of genes encoding ATGL (Pnpla2) or HSL (Lipe) in mice results in striking phenotypic differences, suggesting distinct roles for these lipases. The g...

journal_title：Genomics

authors： Pinent M,Hackl H,Burkard TR,Prokesch A,Papak C,Scheideler M,Hämmerle G,Zechner R,Trajanoski Z,Strauss JG

更新日期：2008-07-01 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

authors： Tanaka T,Inazawa J,Nakamura Y

更新日期：1996-02-15 00:00:00

abstract：:Aldehyde reductase (EC 1.1.1.2; AKR1A1) is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. To study the regulation of its expression, the human aldehyde reductase gene and promoter were cloned and characterized. The protein coding region consists of eight exons,...

journal_title：Genomics

authors： Barski OA,Gabbay KH,Bohren KM

更新日期：1999-09-01 00:00:00

abstract：:The gene for prosaposin was characterized by sequence analysis of chromosomal DNA to gain insight into the evolution of this locus that encodes four highly conserved sphingolipid activator proteins or saposins. The 13 exons ranged in size from 57 to 1200 bp, while the introns were from 91 to 3812 bp in length. The reg...

journal_title：Genomics

authors： Rorman EG,Scheinker V,Grabowski GA

更新日期：1992-06-01 00:00:00

abstract：:In an attempt to identify the genetic basis for susceptibility to non-insulin-dependent diabetes mellitus within the context of obesity, we generated 401 genetically obese Leprfa/Leprfa F2 WKY13M intercross rats that demonstrated wide variation in multiple phenotypic measures related to diabetes, including plasma gluc...

journal_title：Genomics

authors： Chung WK,Zheng M,Chua M,Kershaw E,Power-Kehoe L,Tsuji M,Wu-Peng XS,Williams J,Chua SC Jr,Leibel RL

更新日期：1997-05-01 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

authors： Stubbs L,Huxley C,Hogan B,Evans T,Fried M,Duboule D,Lehrach H

更新日期：1990-04-01 00:00:00