A PstI polymorphism for the human erythrocyte surface protein band 3 (EPB3) demonstrates close linkage of EPB3 to the nerve growth factor receptor.


:Erythrocyte surface protein band 3 (EPB3) plays an important role in CO2 transport in the blood. We have isolated a recombinant lambda bacteriophage that contains coding sequence for the human gene. Sequence analysis demonstrated that the human insert contains a portion of exon 13. A 1.1-kb BamHI fragment revealed a two-allele polymorphism with PstI. Alleles of 1.4 and 0.9/0.5 kb were present in Caucasoids at frequencies of 0.74 and 0.26, respectively. EPB3 has previously been mapped to 17q21-qter by in situ hybridization, and linkage analysis showed that EPB3 is tightly linked to the gene for the nerve growth factor receptor (NGFR). The maximum likelihood estimate of recombination (theta) is 0.00, with a lod score of 11.40 and confidence interval of 0.00 to 0.04.






Stewart EA,Kopito R,Bowcock AM




Has Abstract


1989-10-01 00:00:00
















  • Linked markers flanking the gene for multiple endocrine neoplasia type 2A.

    abstract::The inherited cancer syndrome multiple endocrine neoplasia type 2A (MEN2A) has recently been mapped to chromosome 10. We have typed 29 families with this disorder with DNA markers from the pericentromeric region of chromosome 10. Two markers, RBP3 and MCK2, were tightly linked to the MEN2A gene at recombination fracti...


    pub_type: 杂志文章


    authors: Nakamura Y,Mathew CG,Sobol H,Easton DF,Telenius H,Bragg T,Chin K,Clark J,Jones C,Lenoir GM

    更新日期:1989-08-01 00:00:00

  • Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1.

    abstract::The human DAZ (deleted in azoospermia) gene family on the Y chromosome and an autosomal DAZ-like gene, DAZL1, encode RNA-binding proteins that are expressed exclusively in germ cells. Their role in spermatogenesis is supported by their homology with a Drosophila male infertility gene boule and sterility of Daz11 knock...


    pub_type: 杂志文章


    authors: Tsui S,Dai T,Roettger S,Schempp W,Salido EC,Yen PH

    更新日期:2000-05-01 00:00:00

  • Genome classification improvements based on k-mer intervals in sequences.

    abstract::Given the vast amount of genomic data, alignment-free sequence comparison methods are required due to their low computational complexity. k-mer based methods can improve comparison accuracy by extracting an effective feature of the genome sequences. The aim of this paper is to extract k-mer intervals of a sequence as ...


    pub_type: 杂志文章


    authors: Han GB,Cho DH

    更新日期:2019-12-01 00:00:00

  • A novel endogenous retrovirus-related element in the human genome resembles a DNA transposon: evidence for an evolutionary link?

    abstract::A significant fraction of the human genome is composed of various types of transposable elements, which are divided into two broad classes based on their mehcanism of transposition: via an RNA intermediate (retroelements) or via a DNA intermediate (DNA transposons). The retroelements, which include endogenous retrovir...


    pub_type: 杂志文章


    authors: Hughes JF,Coffin JM

    更新日期:2002-11-01 00:00:00

  • Multipoint mapping of the central core disease locus.

    abstract::A linkage analysis with 12 DNA markers from proximal 19q was performed in eight families with central core disease (CCO). Two-point analysis gave a peak lod score of Z = 4.95 at theta = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at theta = 0.00 for the ryanodine receptor (RYR1) candidate gene. Multipoint li...


    pub_type: 杂志文章


    authors: Schwemmle S,Wolff K,Palmucci LM,Grimm T,Lehmann-Horn F,Hübner C,Hauser E,Iles DE,MacLennan DH,Müller CR

    更新日期:1993-07-01 00:00:00

  • Physical mapping of the rippling muscle disease locus.

    abstract::Rippling muscle disease (RMD) is an autosomal dominant disorder characterized by electrically silent, percussion-induced muscular contractions. We previously reported the localization of a gene for RMD to 1q41-q42 by genome-wide linkage analysis in a large family from Oregon. This RMD gene was initially found to be co...


    pub_type: 杂志文章


    authors: Stephan DA,Hoffman EP

    更新日期:1999-02-01 00:00:00

  • Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family.

    abstract::Several mammalian sialidases have been cloned so far and here we describe the identification and expression of a new member of the human sialidase gene family. The NEU4 gene, identified by searching sequence databases for entries showing homologies to the human cytosolic sialidase NEU2, maps in 2q37 and encodes a 484-...


    pub_type: 杂志文章


    authors: Monti E,Bassi MT,Bresciani R,Civini S,Croci GL,Papini N,Riboni M,Zanchetti G,Ballabio A,Preti A,Tettamanti G,Venerando B,Borsani G

    更新日期:2004-03-01 00:00:00

  • Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes.

    abstract::Glomerulopathy with fibronectin deposits (GFND, MIM 601894) is an autosomal dominant kidney disease that leads to terminal renal failure at a median age of 47 years. It represents a distinct entity of membranoproliferative glomerulonephritis (MPGN) type III and is characterized by the unique feature of massive glomeru...


    pub_type: 杂志文章


    authors: Vollmer M,Kremer M,Ruf R,Miot S,Nothwang HG,Wirth J,Otto E,Krapf R,Hildebrandt F

    更新日期:2000-09-01 00:00:00

  • Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1.

    abstract::Mutations in the FBN1 gene, encoding the extracellular matrix protein fibrillin-1, result in the dominant connective tissue disease Marfan syndrome. Marfan syndrome has a variable phenotype, even within families carrying the same FBN1 mutation. Differences in gene expression resulting from sequence differences in the ...


    pub_type: 杂志文章


    authors: Summers KM,Bokil NJ,Baisden JM,West MJ,Sweet MJ,Raggatt LJ,Hume DA

    更新日期:2009-10-01 00:00:00

  • Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci.

    abstract::Runs of homozygosity are common in European populations and are indicative of consanguinity, restricted population size and recessively inherited traits. Here, we map runs of homozygosity (ROHs) in an Irish case-control cohort for amyotrophic lateral sclerosis (ALS), a devastating neurological condition with high heri...


    pub_type: 杂志文章


    authors: McLaughlin RL,Kenna KP,Vajda A,Heverin M,Byrne S,Donaghy CG,Cronin S,Bradley DG,Hardiman O

    更新日期:2015-04-01 00:00:00

  • DNA-methylation dependent regulation of embryo-specific 5S ribosomal DNA cluster transcription in adult tissues of sea urchin Paracentrotus lividus.

    abstract::We have previously reported a molecular and cytogenetic characterization of three different 5S rDNA clusters in the sea urchin Paracentrotus lividus and recently, demonstrated the presence of high heterogeneity in functional 5S rRNA. In this paper, we show some important distinctive data on 5S rRNA transcription for t...


    pub_type: 杂志文章


    authors: Bellavia D,Dimarco E,Naselli F,Caradonna F

    更新日期:2013-10-01 00:00:00

  • 1.5-Mb YAC contig in Xq28 formatted with sequence-tagged sites and including a region unstable in the clones.

    abstract::A contig of 20 yeast artificial clones (YACs) has been assembled across 1.5 Mb of Xq28 and formatted with nine previously reported probes and nine STSs developed from the sequence of probes and end fragments of YACs. YAC end fragments were obtained by subcloning, Alu-vector PCR, or primer-ligation PCR methods. Eightee...


    pub_type: 杂志文章


    authors: Palmieri G,Romano G,Casamassimi A,D'Urso M,Little RD,Abidi FE,Schlessinger D,Lagerström M,Malmgren H,Steen-Bondeson ML

    更新日期:1993-06-01 00:00:00

  • The DNF15S2 locus at 3p21 is transcribed in normal lung and small cell lung cancer.

    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...


    pub_type: 杂志文章


    authors: Naylor SL,Marshall A,Hensel C,Martinez PF,Holley B,Sakaguchi AY

    更新日期:1989-04-01 00:00:00

  • Associations of UBE2I with RAD52, UBL1, p53, and RAD51 proteins in a yeast two-hybrid system.

    abstract::The yeast RAD52-dependent pathway is involved in DNA recombination and double-strand break repair. Yeast ubiquitin-conjugating enzyme UBC9 participates in S- and M-phase cyclin degradation and mitotic control. Using the human RAD52 protein as the "bait" in a yeast two-hybrid system, we have identified a human homolog ...


    pub_type: 杂志文章


    authors: Shen Z,Pardington-Purtymun PE,Comeaux JC,Moyzis RK,Chen DJ

    更新日期:1996-10-15 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...


    pub_type: 杂志文章


    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

  • 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...


    pub_type: 杂志文章


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

    更新日期:2008-07-01 00:00:00

  • Polymorphisms in matricellular SPP1 and SPARC contribute to susceptibility to papillary thyroid cancer.

    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...


    pub_type: 杂志文章


    authors: Su X,Xu BH,Zhou DL,Ye ZL,He HC,Yang XH,Zhang X,Liu Q,Ma JJ,Shao Q,Yang AK,He CY

    更新日期:2020-11-01 00:00:00

  • Identification of small non-coding RNAs in the planarian Dugesia japonica via deep sequencing.

    abstract::Freshwater planarian flatworm possesses an extraordinary ability to regenerate lost body parts after amputation; it is perfect organism model in regeneration and stem cell biology. Recently, small RNAs have been an increasing concern and studied in many aspects, including regeneration and stem cell biology, among othe...


    pub_type: 杂志文章


    authors: Qin YF,Zhao JM,Bao ZX,Zhu ZY,Mai J,Huang YB,Li JB,Chen G,Lu P,Chen SJ,Su LL,Fang HM,Lu JK,Zhang YZ,Zhang ST

    更新日期:2012-05-01 00:00:00

  • Haplotype variation at Badh2, the gene determining fragrance in rice.

    abstract::Fragrance is an important component of end-use quality in rice. A set of 516 fragrant rice accessions were genotyped and over 80% of them carried the badh2.7 allele. A subset of 144 mostly fragrant accessions, including nine of Oryza rufipogon, was then subjected to a detailed diversity and haplotype analysis. The lev...


    pub_type: 杂志文章


    authors: Shao G,Tang S,Chen M,Wei X,He J,Luo J,Jiao G,Hu Y,Xie L,Hu P

    更新日期:2013-02-01 00:00:00

  • SNP identification, linkage disequilibrium, and haplotype analysis for a 200-kb genomic region in a Korean population.

    abstract::Understanding patterns of linkage disequilibrium (LD) across genomes may facilitate association mapping studies to localize genetic variants influencing complex diseases, a recognition that led to the International Haplotype Mapping Project (HapMap). Divergent patterns of haplotype frequency and LD across global popul...


    pub_type: 杂志文章


    authors: Kim KJ,Lee HJ,Park MH,Cha SH,Kim KS,Kim HT,Kimm K,Oh B,Lee JY

    更新日期:2006-11-01 00:00:00

  • Genome Annotator Light (GAL): A Docker-based package for genome analysis and visualization.

    abstract::Next generation sequencing techniques produce enormous data but its analysis and visualization remains a big challenge. To address this, we have developed Genome Annotator Light(GAL), a Docker based package for genome analysis and data visualization. GAL integrated several existing tools and in-house programs inside a...


    pub_type: 杂志文章


    authors: Panda A,Chaudhari NM,Tripathy S

    更新日期:2020-01-01 00:00:00

  • A novel approach to detect differentially expressed genes from count-based digital databases by normalizing with housekeeping genes.

    abstract::Sequence tag count-based gene expression analysis is potent for the identification of candidate genes relevant to the cancerous phenotype. With the public availability of count-based data, the computational approaches for differentially expressed genes, which are mainly based on Binomial or beta-Binomial distribution,...


    pub_type: 杂志文章


    authors: Lü B,Yu J,Xu J,Chen J,Lai M

    更新日期:2009-09-01 00:00:00

  • Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.

    abstract::Genes playing essential roles in iron homeostasis have yet to be identified. We report the discovery of a strong candidate gene affecting iron homeostasis in two allelic anemia mouse mutants: hea (hereditary erythroblastic anemia) and fsn (flaky skin). To clone this novel gene positionally, we established a large back...


    pub_type: 杂志文章


    authors: White RA,McNulty SG,Nsumu NN,Boydston LA,Brewer BP,Shimizu K

    更新日期:2005-03-01 00:00:00

  • Identification and partial characterization of a candidate gene for X-linked retinopathies using a lateral approach.

    abstract::Using library to library cross-screening we have identified a number of genomic clones that harbor X-linked sequences expressed in the human choroid/retina. We describe the characterization of one of these, designated XEH.8 (DXS542), which is localized to Xp11.3-q12. Isolation, partial sequencing, and Northern analysi...


    pub_type: 杂志文章


    authors: Wong P,MacDonald IM,Sood R,Smith C,Pilon R,Tenniswood M

    更新日期:1993-03-01 00:00:00

  • Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers.

    abstract::PKD1, the gene for the chromosome 16-linked form of autosomal dominant polycystic kidney disease, has previously been genetically mapped to an interval bounded by the polymorphic loci Fr3-42/EKMDA2 distally and O327hb/O90a proximally. More recently, 26.6PROX was identified as the closest proximal flanking locus. We se...


    pub_type: 杂志文章


    authors: Somlo S,Wirth B,Germino GG,Weinstat-Saslow D,Gillespie GA,Himmelbauer H,Steevens L,Coucke P,Willems P,Bachner L

    更新日期:1992-05-01 00:00:00

  • A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy.

    abstract::Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a prevalence of 1 in 500 in human beings. Causative mutations have been identified in several sarcomeric genes, including the cardiac myosin binding protein C (MYBPC3) gene. Heritable HCM also exists in a large-animal model, the cat, and w...


    pub_type: 杂志文章


    authors: Meurs KM,Norgard MM,Ederer MM,Hendrix KP,Kittleson MD

    更新日期:2007-08-01 00:00:00

  • Discovering sequences with potential regulatory characteristics.

    abstract::We developed a computational model to explore the hypothesis that regulatory instructions are context dependent and conveyed through specific 'codes' in human genomic DNA. We provide examples of correlation of computational predictions to reported mapped DNase I hypersensitive segments in the HOXA locus in human chrom...


    pub_type: 杂志文章


    authors: Bina M,Wyss P,Lazarus SA,Shah SR,Ren W,Szpankowski W,Crawford GE,Park SP,Song XC

    更新日期:2009-04-01 00:00:00

  • Construction of two YAC contigs in human Xp11.23-p11.22, one encompassing the loci OATL1, GATA, TFE3, and SYP, the other linking DXS255 to DXS146.

    abstract::We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcom...


    pub_type: 杂志文章


    authors: Fisher SE,Hatchwell E,Chand A,Ockenden N,Monaco AP,Craig IW

    更新日期:1995-09-20 00:00:00

  • Chromosomal localization of a cytochrome b5 gene to human chromosome 18 and a cytochrome b5 pseudogene to the X chromosome.

    abstract::We have isolated cDNA clones that code for human cytochrome b5. Owing to the high degree of evolutionary conservation of cytochrome b5 sequences and the existence of human and rodent cytochrome b5 processed pseudogenes, we were unable to map unambiguously the chromosomal localization of the human gene(s) by Southern b...


    pub_type: 杂志文章


    authors: Shephard EA,Povey S,Spurr NK,Phillips IR

    更新日期:1991-10-01 00:00:00

  • Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system.

    abstract::Members of the solute carrier family 25 (SLC25) are known to transport molecules over the mitochondrial membrane. In this paper we present 14 novel members of SLC25 family in human. These were provided with following gene symbols by the HGNC: SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A37, SLC25A38, SLC25A39, SLC25A...


    pub_type: 杂志文章


    authors: Haitina T,Lindblom J,Renström T,Fredriksson R

    更新日期:2006-12-01 00:00:00