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

abstract：:We report the construction of a 1.5-Mb-resolution radiation hybrid map of the domestic cat genome. This new map includes novel microsatellite loci and markers derived from the 2X genome sequence that target previous gaps in the feline-human comparative map. Ninety-six percent of the 1793 cat markers we mapped have ide...

journal_title：Genomics

authors： Murphy WJ,Davis B,David VA,Agarwala R,Schäffer AA,Pearks Wilkerson AJ,Neelam B,O'Brien SJ,Menotti-Raymond M

更新日期：2007-02-01 00:00:00

abstract：:Most members of the large family of rhodopsin-like G-protein-coupled receptors possess an evolutionarily conserved Asp-Arg-Tyr (DRY) motif in the C-terminal region of the third transmembrane domain. Mutations of residues within this motif usually abolish receptor function and, when they occur naturally, can even cause...

journal_title：Genomics

authors： Römpler H,Yu HT,Arnold A,Orth A,Schöneberg T

更新日期：2006-06-01 00:00:00

abstract：:The murine arylsulfatase A (ARSA) gene and cDNA have been cloned and sequenced. The gene is 3.8 kb long and contains eight exons. All intron/exon splice junctions conform to the GT/AG consensus sequence. The genomic structure is similar to that of the human gene. One major RNA species of 3.2 kb is transcribed. This RN...

journal_title：Genomics

authors： Kreysing J,Polten A,Hess B,von Figura K,Menz K,Steiner F,Gieselmann V

更新日期：1994-01-15 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

authors： Zhao YJ,Li GC,Zhu JY,Liu NY

更新日期：2020-07-01 00:00:00

abstract：:Human genomic mapping has been greatly advanced by the independent development of three new methods: large DNA fragment cloning in yeast artificial chromosomes, amplification from complex DNAs of human specific segments by Alu-PCR, and high-resolution localization of complex DNA probes by fluorescent in situ hybridiza...

journal_title：Genomics

authors： Breen M,Arveiler B,Murray I,Gosden JR,Porteous DJ

更新日期：1992-07-01 00:00:00

abstract：:Analysis of the exon-intron organization of the human dystrophin gene has been hampered by its enormous size. By using a YAC-based exon mapping approach and long PCR, we have succeeded in defining the size of the gene and its organization. Our results, compared with data on the distribution of deletion breakpoints by ...

journal_title：Genomics

authors： Nobile C,Marchi J,Nigro V,Roberts RG,Danieli GA

更新日期：1997-10-15 00:00:00

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...

journal_title：Genomics

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

abstract：:Regions of DNA homology between human and marmoset (Callithrix jacchus) chromosomes have been demonstrated using fluorescence in situ hybridization. All 24 chromosome paints and two centromere repeat sequences from Homo sapiens (HSA) have been annealed to previously G-banded metaphase spreads of Callithrix jacchus. Al...

journal_title：Genomics

authors： Sherlock JK,Griffin DK,Delhanty JD,Parrington JM

更新日期：1996-04-15 00:00:00

abstract：:While scanning for single-nucleotide polymorphisms (SNPs) in the human Xq25-q28 region of CEPH families, we found six long "deserts" of low SNP incidence representing 28% of the investigated genome. One was 1.66 Mb in length. To determine whether these SNP deserts were due to reduced input of mutations or to recent co...

journal_title：Genomics

authors： Miller RD,Taillon-Miller P,Kwok PY

更新日期：2001-01-01 00:00:00

abstract：:This communication describes a software tool that enables one to simulate large-scale regional mapping using an ordered shotgun sequencing approach. The analysis routines that are provided yield an estimate of the depth of coverage of the physical map, the largest contig formed, and the number of gaps remaining at any...

journal_title：Genomics

authors： Singh GB,Krawetz SA

更新日期：1995-01-20 00:00:00

abstract：:Loss of heterozygosity (LOH) of chromosomal regions is crucial in tumor progression. In this study we assessed the potential of the Affymetrix GeneChip HuSNP mapping assay for detecting genome-wide LOH in prostate tumors. We analyzed two human prostate cell lines, P69SV40Tag (P69) and its tumorigenic subline, M12, and...

journal_title：Genomics

authors： Dumur CI,Dechsukhum C,Ware JL,Cofield SS,Best AM,Wilkinson DS,Garrett CT,Ferreira-Gonzalez A

更新日期：2003-03-01 00:00:00

abstract：:Expression of p107, a protein with homology to the retinoblastoma tumor suppressor (pRB), was monitored during murine development. Northern blot tissue surveys identified two transcripts of 4.9 and 2.4 kb that hybridized to a p107 cDNA clone. Expression of both transcripts was detected in fetal tissues, with particula...

journal_title：Genomics

authors： Kim KK,Soonpaa MH,Wang H,Field LJ

更新日期：1995-08-10 00:00:00

abstract：:Despite the increasing number of disorders known to result from trinucleotide repeat amplification, the molecular mechanism underlying these dynamic mutations is still unknown. In an attempt to create a mouse model for the CGG repeat instability seen in Fragile X syndrome, we constructed transgenes corresponding to FM...

journal_title：Genomics

authors： Lavedan C,Grabczyk E,Usdin K,Nussbaum RL

更新日期：1998-06-01 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：:Multiple infections by HPV genotypes are frequently detected in HPV+ cervical lesions but the interaction between each viral genotype during carcinogenesis is poorly understood. Here we carried out a comprehensive study to characterize the multiple HPV expression and integration by RNA-seq analyses of 19 invasive cerv...

journal_title：Genomics

authors： Brant AC,Menezes AN,Felix SP,Almeida LM,Moreira MAM

更新日期：2020-09-01 00:00:00

abstract：:The human ortholog of the gene responsible for audiogenic seizure susceptibility in Frings and BUB/BnJ mice (mouse gene symbol Mass1) recently was shown to underlie Usher syndrome type IIC (USH2C). Here we report that the Mass1frings mutation is responsible for the early onset hearing impairment of BUB/BnJ mice. We fo...

journal_title：Genomics

authors： Johnson KR,Zheng QY,Weston MD,Ptacek LJ,Noben-Trauth K

更新日期：2005-05-01 00:00:00

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...

journal_title：Genomics

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

更新日期：2013-11-01 00:00:00

abstract：:Alternative splicing is an important cellular mechanism that increases the diversity of gene products. The number of alternatively spliced genes reported so far in plants is much smaller than that in mammals, but is increasing as a result of the explosive growth of available EST and genomic sequences. We have searched...

journal_title：Genomics

authors： Zhou Y,Zhou C,Ye L,Dong J,Xu H,Cai L,Zhang L,Wei L

更新日期：2003-12-01 00:00:00

abstract：:BRF1 (Butyrate response factor 1) is a member of an immediate early gene family specifying putative nuclear transcription factors. A repeat motif incorporating two Cys and two His is highly conserved between family members identified from yeast, Drosophila, mouse, rat, and human. The chromosome localization of none of...

journal_title：Genomics

authors： Maclean KN,See CG,McKay IA,Bustin SA

更新日期：1995-11-01 00:00:00

abstract：:Friedreich ataxia results from frataxin insufficiency caused by repeat expansion in intron 1 of the frataxin gene. Since the coding sequence is unchanged, the potential exists to ameliorate symptoms by increasing frataxin promoter activity. We therefore defined the minimal frataxin promoter in humans. Despite the fact...

journal_title：Genomics

authors： Greene E,Entezam A,Kumari D,Usdin K

更新日期：2005-02-01 00:00:00

abstract：:An autosomal dominant retinal degeneration, called Rd4, was found in a stock carrying the inversion In(4)56Rk, which was induced in a DBA/2J male. The inversion encompasses nearly all of Chromosome 4. It is homozygous lethal and in heterozygotes is always associated with retinal degeneration. In affected mice, the ret...

journal_title：Genomics

authors： Roderick TH,Chang B,Hawes NL,Heckenlively JR

更新日期：1997-06-15 00:00:00

abstract：:Complete or partial monosomy 7 is a recurring cytogenetic abnormality in acute myelogenous leukemia (AML) and myeloproliferative syndromes (MPS) and is particularly common in patients with Fanconi's anemia and in secondary AML. A familial form of monosomy 7 has been recognized in which two or more siblings develop MPS...

journal_title：Genomics

authors： Shannon KM,Turhan AG,Rogers PC,Kan YW

更新日期：1992-09-01 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：:A relatively abundant component of the polymorphonuclear leukocyte granulocytes has been recently isolated and called defensin. Defensins have antimicrobial activity against gram-positive and gram-negative bacteria and enveloped viruses. A cDNA insert for defensin HNP-1 (DEF1) has been used to map the gene(s) to human...

journal_title：Genomics

authors： Sparkes RS,Kronenberg M,Heinzmann C,Daher KA,Klisak I,Ganz T,Mohandas T

更新日期：1989-08-01 00:00:00

abstract：:We have developed a graphical image database CancerProView (URL: http://cancerproview.dmb.med.keio.ac.jp/php/cpv.html) to assist the search for alterations of the motifs/domains in the cancer-related proteins that are caused by mutations in the corresponding genes. For the CancerProView, we have collected various kind...

journal_title：Genomics

authors： Mitsuyama S,Shimizu N

更新日期：2012-08-01 00:00:00

abstract：:The deletion of the short arm of chromosome 5 is associated with the cri-du-chat syndrome. In addition, loss of this portion of a chromosome is a common cytogenetic marker in a number of malignancies. However, to date, no genes associated with these disorders have been identified. Physical maps are the first step in i...

journal_title：Genomics

authors： Gersh M,Goodart SA,Overhauser J

更新日期：1994-12-01 00:00:00

abstract：:Spt3 is a Saccharomyces cerevisiae transcription factor that is required in vivo for the transcription of a number of RNA polymerase II-transcribed genes. We report the cloning of the gene encoding the human homologue of Spt3, SUPT3H, and its initial functional analysis. The human and yeast Spt3 homologues share an ov...

journal_title：Genomics

authors： Yu J,Madison JM,Mundlos S,Winston F,Olsen BR

更新日期：1998-10-01 00:00:00

abstract：:Consecutive application of PCR and serial analysis of gene expression (SAGE) was used to generate a catalog of approximately 50, 000 SAGEtags from nine human oocytes. Matches for known genes were identified using the National Institutes of Health SAGEtag database. This database links directly to the UniGene database, ...

journal_title：Genomics

authors： Neilson L,Andalibi A,Kang D,Coutifaris C,Strauss JF 3rd,Stanton JA,Green DP

更新日期：2000-01-01 00:00:00

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

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

更新日期：1995-09-01 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

authors： VandeBerg JL,Weitkamp L,Kammerer CM,Weill P,Aivaliotis MJ,Rainwater DL

更新日期：1991-12-01 00:00:00