Organization of the human beta-adducin gene (ADD2).

Abstract:

:The intron-exon organization of the human beta-adducin gene (ADD2) has been determined from overlapping genomic clones. The gene spans over 100 kb on chromosome 2p13 and comprises 17 exons. Seven of the exons are identical in size to the corresponding exons of the alpha-adducin gene (4p16.3), suggesting gene duplication. A 275-bp fragment 5' to exon 1 demonstrates strong promoter activity in a transient transfection assay. Within 333 bp 5' of the first exon can be found several putative transcription factor-binding sites: three SP1 sites, one GATA site, three MZF1 sites, one p300 site, and one c-Ets site. Alternatively spliced exons in the 3' region are described and contain distinct coding regions, stop codons, and 3'UTR, corresponding to previously published beta-adducin cDNA sequences beta-1 and beta-2. The alternative splice sites for the smallest adducin isoform, beta-3, are alternative donor and acceptor sites within exons 7 and 12. The most recently described isoform, beta-4, includes an alternative exon (exon 15) that results in a frame shift and early termination. Intron-exon splice sites are presented for all 17 exons and conform to the consensus sequences for mammalian splice sites. These results will be useful in further analysis of tissue-specific expression of adducin isoforms and in analysis of DNA from patients with diseases mapping to this region of chromosome 2.

journal_name

Genomics

journal_title

Genomics

authors

Gilligan DM,Lozovatsky L,Silberfein A

doi

10.1006/geno.1997.4802

subject

Has Abstract

pub_date

1997-07-15 00:00:00

pages

141-8

issue

2

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(97)94802-3

journal_volume

43

pub_type

杂志文章

相关文献

GENOMICS文献大全
  • 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

  • Transposition, amplification, and divergence in the origin of the DNF15 loci, a polymorphic repetitive sequence family on chromosomes 1 and 3.

    abstract::The loci DNF15S1 and DNF15S2 are members of a small repetitive sequence family at discrete chromosomal locations, namely, 1p36 and 3p21, respectively. Studies of the structure, arrangement, and interrelations of the family suggest that the single copy on chromosome 3 is the original member and that this gave rise to t...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(89)90005-0

    authors: Welch HM,Darby JK,Pilz AJ,Ko CM,Carritt B

    更新日期:1989-10-01 00:00:00

  • A first comparative map of copy number variations in the sheep genome.

    abstract::We carried out a cross species cattle-sheep array comparative genome hybridization experiment to identify copy number variations (CNVs) in the sheep genome analysing ewes of Italian dairy or dual-purpose breeds (Bagnolese, Comisana, Laticauda, Massese, Sarda, and Valle del Belice) using a tiling oligonucleotide array ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2010.11.005

    authors: Fontanesi L,Beretti F,Martelli PL,Colombo M,Dall'olio S,Occidente M,Portolano B,Casadio R,Matassino D,Russo V

    更新日期:2011-03-01 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

  • 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

  • Molecular analysis of the cDNA and genomic DNA encoding mouse RNA helicase A.

    abstract::RNA helicase A is an enzyme that possesses both RNA and DNA helicase activities. In this report, we describe the isolation of a mouse cDNA encoding RNA helicase A. The deduced amino acid sequence derived from mouse RNA helicase A cDNA exhibits 87 and 47% identity to its human and Drosophila homologs, respectively. Usi...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.5139

    authors: Lee CG,Eki T,Okumura K,da Costa Soares V,Hurwitz J

    更新日期:1998-02-01 00:00:00

  • Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.

    abstract::Aspartylglucosaminuria (AGU) is a recessively inherited lysosomal disease caused by inadequate aspartylglucosaminidase (AGA) activity. The disease is prevalent in the genetically isolated Finnish population. We have used a new method, solid-phase minisequencing, to determine the frequency of two missense mutations in ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(92)90452-x

    authors: Syvänen AC,Ikonen E,Manninen T,Bengtström M,Söderlund H,Aula P,Peltonen L

    更新日期:1992-03-01 00:00:00

  • Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic analyses and identification of the causative mutation of the nonagouti black coat colour.

    abstract::The agouti locus encodes the agouti signalling protein (ASIP) which is involved in determining the switch from eumelanin to pheomelanin synthesis in melanocytes. In the domestic rabbit (Oryctolagus cuniculus) early studies indicated three alleles at this locus: A, light-bellied agouti (wild type); a(t), black and tan;...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2009.11.003

    authors: Fontanesi L,Forestier L,Allain D,Scotti E,Beretti F,Deretz-Picoulet S,Pecchioli E,Vernesi C,Robinson TJ,Malaney JL,Russo V,Oulmouden A

    更新日期:2010-03-01 00:00:00

  • Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats.

    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

    authors: Rorman EG,Grabowski GA

    更新日期:1989-10-01 00:00:00

  • The gene for murine CTP:phosphocholine cytidylyltransferase (Ctpct) is located on mouse chromosome 16.

    abstract::CTP:phosphocholine cytidylyltransferase is the rate-controlling enzyme in phosphatidylcholine biosynthesis and is essential for the survival of eukaryotic cells. The murine cDNA for the cytidylyltransferase was cloned and sequenced. A genomic clone was isolated and the chromosomal location of the Ctpct locus determine...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/s0888-7543(05)80377-5

    authors: Rutherford MS,Rock CO,Jenkins NA,Gilbert DJ,Tessner TG,Copeland NG,Jackowski S

    更新日期:1993-12-01 00:00:00

  • Structure of the gene encoding the murine protein kinase CK2 beta subunit.

    abstract::The mouse protein kinase CK2 beta subunit gene (Csnk2b) is composed of seven exons contained within 7874 bp. The exon and intron lengths extend from 76 to 321 and 111 to 1272 bp, respectively. The lengths of the murine coding exons correspond exactly to the lengths of the exons in the human CK2 beta gene. Both genes c...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1995.1239

    authors: Boldyreff B,Issinger OG

    更新日期:1995-09-01 00:00:00

  • Genome analysis provides insights into crude oil degradation and biosurfactant production by extremely halotolerant Halomonas desertis G11 isolated from Chott El-Djerid salt-lake in Tunisian desert.

    abstract::Here, we report the genomic features and the bioremediation potential of Halomonas desertis G11, a new halophilic species which uses crude oil as a carbon and energy source and displays intrinsic resistance to salt stress conditions (optimum growth at 10% NaCl). G11 genome (3.96 Mb) had a mean GC content of 57.82%, 36...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2018.12.003

    authors: Neifar M,Chouchane H,Najjari A,El Hidri D,Mahjoubi M,Ghedira K,Naili F,Soufi L,Raddadi N,Sghaier H,Ouzari HI,Masmoudi AS,Cherif A

    更新日期:2019-12-01 00:00:00

  • Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene.

    abstract::The general strategies of phototransduction in vertebrates and invertebrates share many similarities, but differ significantly in their underlying molecular machinery. The CDS gene encodes the CDP-diacylglycerol synthase (CDS) enzyme and is required for phototransduction in Drosophila. Using a bioinformatic approach, ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1998.5610

    authors: Volta M,Bulfone A,Gattuso C,Rossi E,Mariani M,Consalez GG,Zuffardi O,Ballabio A,Banfi S,Franco B

    更新日期:1999-01-01 00:00:00

  • Genomic organization, sequence analysis, and chromosomal localization of the human carboxyl ester lipase (CEL) gene and a CEL-like (CELL) gene.

    abstract::The gene encoding human carboxyl ester lipase (CEL), including 1628 bp of the 5'-flanking region, has been isolated and characterized from two overlapping lambda phage clones. The gene spans 9832 bp and contains 11 exons interrupted by 10 introns. The exons range in size from 88 to 204 bp, except for the last exon, wh...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(92)90134-e

    authors: Lidberg U,Nilsson J,Strömberg K,Stenman G,Sahlin P,Enerbäck S,Bjursell G

    更新日期:1992-07-01 00:00:00

  • The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter.

    abstract::The genomic structure, transcription start site, polyadenylation signals, and promoter of the human Na+/ myo-inositol cotransporter (SLC5A3) gene have been elucidated through cloning, sequencing, mRNA analyses, and reporter gene assays. The gene consists of one promoter and two exons spanning approximately 26 kb. Exon...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.5055

    authors: Mallee JJ,Atta MG,Lorica V,Rim JS,Kwon HM,Lucente AD,Wang Y,Berry GT

    更新日期:1997-12-15 00:00:00

  • Genetic heterogeneity of familial hemiplegic migraine.

    abstract::Familial hemiplegic migraine (FHM) is a distinctive form of migraine with an autosomal dominant mode of inheritance. The migraine-like attacks are associated with transient hemiparesis. A locus for FHM has recently been assigned to chromosome 19 by linkage mapping. In the present study, five unrelated pedigrees with m...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1994.1340

    authors: Ophoff RA,van Eijk R,Sandkuijl LA,Terwindt GM,Grubben CP,Haan J,Lindhout D,Ferrari MD,Frants RR

    更新日期:1994-07-01 00:00:00

  • CLAN, a novel human CED-4-like gene.

    abstract::Proteins governing cell death form the basis of many normal processes and contribute to the pathogenesis of many diseases when dysregulated. Here we report the cloning of a novel human CED-4-like gene, CLAN, and several of its alternatively spliced isoforms. These caspase-associated recruitment domain (CARD)-containin...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.2001.6579

    authors: Damiano JS,Stehlik C,Pio F,Godzik A,Reed JC

    更新日期:2001-07-01 00:00:00

  • A YAC contig joining the desmocollin and desmoglein loci on human chromosome 18 and ordering of the desmocollin genes.

    abstract::The desmocollins and desmogleins are members of the cadherin family of adhesive proteins present in the desmosome type of cell-cell junction. All of the known desmoglein and desmocollin isoforms, which have differing tissue and developmental distributions, are coded by very closely linked genes at 18q12.1. We have pre...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.4718

    authors: Cowley CM,Simrak D,Marsden MD,King IA,Arnemann J,Buxton RS

    更新日期:1997-06-01 00:00:00

  • Chromosome mapping of the owl monkey CSF1R and IL5 genes.

    abstract::We mapped the owl monkey colony-stimulating factor 1 receptor (CSF1R) locus to the proximal region of chromosome 3q of karyotype VI(K-VI) and karyotype V(K-V) and the interleukin 5 (IL5) locus to the mid-region of chromosome 3q(K-VI) and 19q(K-IV) using a combination of Southern hybridization of somatic cells and in s...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(92)90034-p

    authors: Ma NS,Lin KC

    更新日期:1992-08-01 00:00:00

  • The human ICAM2 gene maps to 17q23-25.

    abstract::The intercellular adhesion molecules ICAM1 and ICAM2 are the cell-surface ligands for the lymphocyte function-associated antigen LFA-1 (CD11a/CD18) and are thought to mediate cell-cell adhesion interactions required by the immune system. However, differences in tissue distribution, inducibility of expression, and over...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(91)90157-a

    authors: Sansom D,Borrow J,Solomon E,Trowsdale J

    更新日期:1991-10-01 00:00:00

  • Chromosomal mapping of five highly conserved murine homologues of the Drosophila RING finger gene seven-in-absentia.

    abstract::Seven-in-absentia (sina) is epistatic to all other known genes in the sevenless-ras signaling pathway, which mediates R7 photoreceptor formation in the Drosophila eye. The murine genome contains several closely related sina homologues (Siah1A-D, Siah2) that are also likely to participate in ras signaling. As part of a...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.4642

    authors: Holloway AJ,Della NG,Fletcher CF,Largespada DA,Copeland NG,Jenkins NA,Bowtell DD

    更新日期:1997-04-15 00:00:00

  • Molecular cloning and chromosomal localization of the ADH7 gene encoding human class IV (sigma) ADH.

    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

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0040

    authors: Yokoyama H,Baraona E,Lieber CS

    更新日期:1996-01-15 00:00:00

  • A 1.2-Mb YAC contig spans the quaking region.

    abstract::We describe here a 1.2-Mb yeast artificial chromosome (YAC) contig within the region of mouse chromosome 17 between Brachyury (T) and D17Rp17e, and spanning the quaking (qk) region. We describe six new probes distributed across 1.2 Mb: D17Leh502, D17Leh503, D17Leh504, D17Leh505, D17Leh506, and D17Leh507. Probes D17Leh...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1994.1227

    authors: Cox RD,Shedlovsky A,Hamvas R,Goldsworthy M,Whittington J,Connelly CS,Dove WF,Lehrach H

    更新日期:1994-05-01 00:00:00

  • Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21.

    abstract::The human homeobox-containing genes EN1 and EN2 are closely related to the Drosophila pattern formation gene engrailed (en), which may be important in brain development, as shown by gene expression studies during mouse embryogenesis. Here, we have refined the localization of EN1 to human chromosome 2q13-q21 using a ma...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1993.1045

    authors: Köhler A,Logan C,Joyner AL,Muenke M

    更新日期:1993-01-01 00:00:00

  • Human repeat element-mediated PCR: cloning and mapping of chromosome 10 DNA markers.

    abstract::Repeat element-mediated PCR can facilitate rapid cloning and mapping of human chromosomal region-specific DNA markers from somatic cell hybrid DNA. PCR primers directed to human repeat elements result in human-specific DNA synthesis; template DNA derived from a somatic cell hybrid containing the human chromosomal regi...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(92)90261-p

    authors: Brooks-Wilson AR,Smailus DE,Weier HU,Goodfellow PJ

    更新日期:1992-06-01 00:00:00

  • Genome multiplication as adaptation to tissue survival: evidence from gene expression in mammalian heart and liver.

    abstract::To elucidate the functional significance of genome multiplication in somatic tissues, we performed a large-scale analysis of ploidy-associated changes in expression of non-tissue-specific (i.e., broadly expressed) genes in the heart and liver of human and mouse (6585 homologous genes were analyzed). These species have...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2006.08.014

    authors: Anatskaya OV,Vinogradov AE

    更新日期:2007-01-01 00:00:00

  • Structure, chromosomal locus, and promoter of mouse Hes2 gene, a homologue of Drosophila hairy and Enhancer of split.

    abstract::Hes2 encodes a mammalian basic helix-loop-helix transcriptional repressor homologous to the products of Drosophila hairy and Enhancer of split. Here, we isolated and characterized the mouse Hes2 gene. This gene consists of four exons, and all the introns are located within the protein-coding region at positions homolo...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1998.5213

    authors: Nishimura M,Isaka F,Ishibashi M,Tomita K,Tsuda H,Nakanishi S,Kageyama R

    更新日期:1998-04-01 00:00:00

  • Genome structure in soybean revealed by a genomewide genetic map constructed from a single population.

    abstract::A complete genetic linkage map of the soybean, in which sequence-based (SB) genetic markers are evenly distributed genomewide, was constructed from an F(12) population composed of 113 recombinant inbred lines derived from an interspecific cross involving Korean genotypes Hwangkeum and IT182932. Several approaches were...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2008.03.008

    authors: Yang K,Moon JK,Jeong N,Back K,Kim HM,Jeong SC

    更新日期:2008-07-01 00:00:00

  • The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid.

    abstract::Previous studies identified the gene encoding the erythrocyte membrane protein 4.2 (Epb4.2) as a candidate for the mouse mutation pallid (pa); Epb4.2 genetically colocalized near pa on mouse Chromosome 2, and a truncated Epb4.2 transcript was present in tissues derived from pallid mice. We report here evidence that Ep...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.4764

    authors: Gwynn B,Korsgren C,Cohen CM,Ciciotte SL,Peters LL

    更新日期:1997-06-15 00:00:00

  • Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH).

    abstract::Pax-1, a member of a murine multigene family, belongs to the paired box-containing class of developmental control genes first identified in Drosophila. The Pax-1 gene encodes a sequence-specific DNA-binding protein with transcriptional activating properties and has been found to be mutated in the autosomal recessive m...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/s0888-7543(05)80177-6

    authors: Schnittger S,Rao VV,Deutsch U,Gruss P,Balling R,Hansmann I

    更新日期:1992-11-01 00:00:00