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


: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 the several members on chromosome 1 by transposition, partial duplication, and amplification. Several restriction fragment length polymorphisms have been discovered at the DNF15S1 locus and these have been assigned to the different subfamilies of the repeat at this locus. The existence of these RFLPs, and the nonallelic restriction site variation also found in this sequence family, suggests that transposition and amplification occurred as discrete events. We sequenced across the ancient junction between chromosomes 1 and 3 and noted features which might explain the mechanics of the transposition and amplification events.






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




Has Abstract


1989-10-01 00:00:00
















  • i6mA-stack: A stacking ensemble-based computational prediction of DNA N6-methyladenine (6mA) sites in the Rosaceae genome.

    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...


    pub_type: 杂志文章


    authors: Khanal J,Lim DY,Tayara H,Chong KT

    更新日期:2020-10-01 00:00:00

  • Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11.

    abstract::Members of the apolipoprotein gene cluster (APOA1/C3/A4/A5) on human chromosome 11q23 play an important role in lipid metabolism. Polymorphisms in both APOA5 and APOC3 are strongly associated with plasma triglyceride concentrations. The close genomic locations of these two genes as well as their functional similarity ...


    pub_type: 杂志文章


    authors: Olivier M,Wang X,Cole R,Gau B,Kim J,Rubin EM,Pennacchio LA

    更新日期:2004-05-01 00:00:00

  • Bilateral congenital cataracts result from a gain-of-function mutation in the gene for aquaporin-0 in mice.

    abstract::Cataract Tohoku (Cat(Tohm)) is a dominant cataract mutation that leads to severe degeneration of lens fiber cells. Linkage analysis showed that the Cat(Tohm) mutation is located on mouse chromosome 10, close to the gene for aquaporin-0 (Aqp0), which encodes a membrane protein that is expressed specifically in lens fib...


    pub_type: 杂志文章


    authors: Okamura T,Miyoshi I,Takahashi K,Mototani Y,Ishigaki S,Kon Y,Kasai N

    更新日期:2003-04-01 00:00:00

  • Characterization of the polycystic kidney disease 2 gene promoter.

    abstract::The key regulatory elements for PKD2 transcription remain unclear. To identify these core elements, we characterized porcine PKD2 promoter with bioinformatics and molecular tools and found porcine PKD2 promoter bearing typical features of enriched CpG and less TATA. Further studies demonstrated that the core region wa...


    pub_type: 杂志文章


    authors: Wang Q,Han G,Ye J,Gao X,Niu H,Zhao J,Chai Y,Li N,Yin H

    更新日期:2014-12-01 00:00:00

  • Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.

    abstract::The majority of Williams-Beuren syndrome (WBS) patients have been shown to have a microdeletion within 7q11.2 including the elastin gene locus. The extent of these deletions has, however, not been well characterized. Thirty-five deletion patients were tested for all polymorphic markers in the 7q11.2 region bounding EL...


    pub_type: 杂志文章


    authors: Robinson WP,Waslynka J,Bernasconi F,Wang M,Clark S,Kotzot D,Schinzel A

    更新日期:1996-05-15 00:00:00

  • A dicistronic gene pair within a cluster of "EF-hand" protein genes in the genomes of Drosophila species.

    abstract::Androcam is a Drosophila melanogaster calmodulin-related protein that functions specifically in the testis. We show that the Acam gene is part of a cluster of three intronless genes arranged in a head-to-tail manner. The additional genes also encode calmodulin-related proteins with testis-specific transcription. Acam ...


    pub_type: 杂志文章


    authors: Pavlik P,Konduri V,Massa E,Simonette R,Beckingham KM

    更新日期:2006-09-01 00:00:00

  • Wdr12, a mouse gene encoding a novel WD-Repeat Protein with a notchless-like amino-terminal domain.

    abstract::The WD-repeat protein family consists of a large group of structurally related yet functionally diverse proteins found predominantly in eukaryotic cells. These factors contain several (4-16) copies of a recognizable amino-acid sequence motif (the WD unit) thought to be organized into a "propeller-like" structure invol...


    pub_type: 杂志文章


    authors: Nal B,Mohr E,Silva MI,Tagett R,Navarro C,Carroll P,Depetris D,Verthuy C,Jordan BR,Ferrier P

    更新日期:2002-01-01 00:00:00

  • Detection of single DNA base mutations with mismatch repair enzymes.

    abstract::A novel method for identifying DNA point mutations has been developed by using mismatch repair enzymes. The high specificity of the Escherichia coli MutY protein has permitted the development of a reliable and sensitive method for the detection and characterization of point mutations in the human genome. The MutY prot...


    pub_type: 杂志文章


    authors: Lu AL,Hsu IC

    更新日期:1992-10-01 00:00:00

  • The protein tyrosine phosphatase epsilon gene maps to mouse chromosome 7 and human chromosome 10q26.

    abstract::We have mapped the mouse protein tyrosine phosphatase epsilon (PTP epsilon, gene symbol Ptpre) gene to the distal region of chromosome 7 by linkage analysis using two sets of multilocus genetic crosses. The human PTP epsilon gene (gene symbol PTPRE) was mapped to chromosome 10q26 by fluorescence in situ hybridization....


    pub_type: 杂志文章


    authors: Elson A,Kozak CA,Morton CC,Weremowicz S,Leder P

    更新日期:1996-02-01 00:00:00

  • Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.

    abstract::Hereditary congenital facial paresis (HCFP) belongs to the family of congenital cranial dysinnervation disorders and is characterized by an isolated dysfunction of the facial nerve (nVII). While genetic defects have been identified for several members of this disease family, genes underlying congenital facial paresis ...


    pub_type: 杂志文章


    authors: van der Zwaag B,Burbach JP,Scharfe C,Oefner PJ,Brunner HG,Padberg GW,van Bokhoven H

    更新日期:2005-07-01 00:00:00

  • Accelerated expansion of group IID-like phospholipase A2 genes in Bos taurus.

    abstract::Low-molecular-weight, calcium-dependent phospholipase A2 genes (PLA2s) that belong to the secreted type of PLA2s are clustered within a syntenic group on human 1p35-p36 and mouse 4qD3. We reassembled trace files available from the Whole Genome Sequencing (WGS) Project, obtaining an 86-kb contig with three tandem PLA2G...


    pub_type: 杂志文章


    authors: Golik M,Cohen-Zinder M,Loor JJ,Drackley JK,Band MR,Lewin HA,Weller JI,Ron M,Seroussi E

    更新日期:2006-04-01 00:00:00

  • Molecular cloning and chromosomal localization of the human alpha 7-nicotinic receptor subunit gene (CHRNA7).

    abstract::We have isolated cDNA and genomic clones coding for the human alpha 7 neuronal nicotinic receptor subunit, the major component of brain nicotinic receptors that are blocked by alpha-bungarotoxin. The human alpha 7 neuronal nicotinic cDNA encodes a mature protein of 479 amino acids that is highly homologous to the rat ...


    pub_type: 杂志文章


    authors: Chini B,Raimond E,Elgoyhen AB,Moralli D,Balzaretti M,Heinemann S

    更新日期:1994-01-15 00:00:00

  • The order and transcriptional orientation of the human COL13A1 and P4HA genes on chromosome 10 long arm determined by high-resolution FISH.

    abstract::The genes for type XIII collagen (COL13A1) and prolyl 4-hydroxylase (P4HA) were previously assigned to human chromosome 10q by radioactive in situ hybridization. Here we have applied fluorescence in situ hybridization combined with targets representing different levels of resolution to determine, first, the order of t...


    pub_type: 杂志文章


    authors: Horelli-Kuitunen N,Kvist AP,Helaakoski T,Kivirikko K,Pihlajaniemi T,Palotie A

    更新日期:1997-12-01 00:00:00

  • Structural organization of the human microsomal glutathione S-transferase gene (GST12).

    abstract::The primary structure of the human microsomal glutathione S-transferase gene (GST12) was determined by genomic cloning. The gene structure of GST12 spans 12.8 kb and consists of four exons and three introns. The coding sequence resides on exons 2, 3, and 4. Sequencing of the exons revealed two nucleotide differences c...


    pub_type: 杂志文章


    authors: Kelner MJ,Stokely MN,Stovall NE,Montoya MA

    更新日期:1996-08-15 00:00:00

  • The HNF-3 gene family of transcription factors in mice: gene structure, cDNA sequence, and mRNA distribution.

    abstract::The rat HNF-3 (hepatocyte nuclear factor 3) gene family encodes three transcription factors known to be important in the regulation of gene expression in liver and lung. We have cloned and characterized the mouse genes and cDNAs for HNF-3 alpha, beta, and gamma and analyzed their expression patterns in various adult t...


    pub_type: 杂志文章


    authors: Kaestner KH,Hiemisch H,Luckow B,Schütz G

    更新日期:1994-04-01 00:00:00

  • Isolation, characterization, and mapping of the mouse and human WDR8 genes, members of a novel WD-repeat gene family.

    abstract::The Trp-Asp (WD) motif has been shown to exist in a number of proteins. Genes containing repeats of the WD motif compose a large gene family associated with a variety of cellular functions and can be divided into a number of functional subfamilies. By means of the differential display method using ttw, a mouse model f...


    pub_type: 杂志文章


    authors: Koshizuka Y,Ikegawa S,Sano M,Nakamura K,Nakamura Y

    更新日期:2001-03-15 00:00:00

  • Conservation of position and sequence of a novel, widely expressed gene containing the major human alpha-globin regulatory element.

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    pub_type: 杂志文章


    authors: Vyas P,Vickers MA,Picketts DJ,Higgs DR

    更新日期:1995-10-10 00:00:00

  • Functional analysis of bacterial artificial chromosomes in mammalian cells: mouse Cdc6 is associated with the mitotic spindle apparatus.

    abstract::Bacterial artificial chromosomes (BACs) provide a well-characterized resource for studying the functional organization of genes and other large chromosomal domains. To facilitate functional studies in cell cultures, we have developed a simple approach for generating stable cell lines with variable copy numbers of any ...


    pub_type: 杂志文章


    authors: Illenye S,Heintz NH

    更新日期:2004-01-01 00:00:00

  • Frequent appearance of novel protein-coding sequences by frameshift translation.

    abstract::Genomic duplication, followed by divergence, contributes to organismal evolution. Several mechanisms, such as exon shuffling and alternative splicing, are responsible for novel gene functions, but they generate homologous domains and do not usually lead to drastic innovation. Major novelties can potentially be introdu...


    pub_type: 杂志文章


    authors: Okamura K,Feuk L,Marquès-Bonet T,Navarro A,Scherer SW

    更新日期:2006-12-01 00:00:00

  • Temporal correlation between transcriptional changes and increased synthesis of hyaluronan in experimental cardiac hypertrophy.

    abstract::The role of hyaluronan in cardiac growth has become evident, previously shown by increased myocardial levels of hyaluronan in a rat model of cardiac hypertrophy. To further investigate the role of hyaluronan and regulation of its synthesis in cardiac hypertrophy, quantitative measurements of myocardial hyaluronan conc...


    pub_type: 杂志文章


    authors: Hellman U,Mörner S,Engström-Laurent A,Samuel JL,Waldenström A

    更新日期:2010-08-01 00:00:00

  • Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).

    abstract::We describe here a new type of X-linked liver glycogen storage disease. The main symptoms include liver enlargement and growth retardation. The clinical and biochemical abnormalities of this glycogenosis are similar to those of classical X-linked liver glycogenosis due to phosphorylase kinase deficiency (XLG). However...


    pub_type: 杂志文章


    authors: Hendrickx J,Coucke P,Hors-Cayla MC,Smit GP,Shin YS,Deutsch J,Smeitink J,Berger R,Lee P,Fernandes J

    更新日期:1994-06-01 00:00:00

  • Characterization of the MADH2/Smad2 gene, a human Mad homolog responsible for the transforming growth factor-beta and activin signal transduction pathway.

    abstract::The transforming growth factor beta (TGF-beta) superfamily is a family of multifunctional cytokines that transduce signals via serine/threonine kinase receptors. Recent studies revealed that Mothers against dpp (Mad) in Drosophila and its homologs play important roles in the intracellular signal transduction of the se...


    pub_type: 杂志文章


    authors: Takenoshita S,Mogi A,Nagashima M,Yang K,Yagi K,Hanyu A,Nagamachi Y,Miyazono K,Hagiwara K

    更新日期:1998-02-15 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...


    pub_type: 杂志文章


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

    更新日期:1997-06-15 00:00:00

  • Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15.

    abstract::Homozygous transgenic mice from line A4 have an early-onset progressive neuromuscular disorder characterized by paralysis of the rear limbs, muscle atrophy, and lethality by 4 weeks of age. The transgene insertion site was mapped to distal chromosome 15 close to the locus motor endplate disease (med). The sequence of ...


    pub_type: 杂志文章


    authors: Kohrman DC,Plummer NW,Schuster T,Jones JM,Jang W,Burgess DL,Galt J,Spear BT,Meisler MH

    更新日期:1995-03-20 00:00:00

  • Comparative genomics study for identification of drug and vaccine targets in Vibrio cholerae: MurA ligase as a case study.

    abstract::A systematic workflow consisting of comparative genomics, metabolic pathways analysis and additional drug prioritization parameters identified 264 proteins of Vibrio cholerae which were predicted to be absent in Homo sapiens. Among these, 40 proteins were identified as essential proteins that could serve as potential ...


    pub_type: 杂志文章


    authors: Chawley P,Samal HB,Prava J,Suar M,Mahapatra RK

    更新日期:2014-01-01 00:00:00

  • Molecular cloning, localization, and developmental expression of mouse brain finger protein (Bfp)/ZNF179: distribution of bfp mRNA partially coincides with the affected areas of Smith-Magenis syndrome.

    abstract::Bfp (brain finger protein) is a member of the RING finger protein family, which is highly expressed in the brain. We have previously shown that one copy of the human bfp gene, mapped at 17p11.2, was actually deleted in six of six Smith-Magenis syndrome (SMS) patients. Now we have isolated the mouse bfp cDNA. Using in ...


    pub_type: 杂志文章


    authors: Orimo A,Inoue S,Ikeda K,Sato M,Kato A,Tominaga N,Suzuki M,Noda T,Watanabe M,Muramatsu M

    更新日期:1998-11-15 00:00:00

  • Discrimination between alpha-satellite DNA sequences from chromosomes 21 and 13 by using polymerase chain reaction.

    abstract::alpha-Satellite subfamilies from chromosomes 21 and 13 are almost identical in sequence and cannot be distinguished from each other by hybridization techniques. A general method based on membrane-bound PCR is described here, allowing the discrimination of alpha-satellite DNA sequences from each of these two chromosome...


    pub_type: 杂志文章


    authors: Charlieu JP,Murgue B,Laurent AM,Marçais B,Bellis M,Roizès G

    更新日期:1992-10-01 00:00:00

  • The effect of 5-fluorouracil/leucovorin chemotherapy on CpG methylation, or the confounding role of leukocyte heterogeneity: An illustration.

    abstract::Blood-based epigenome-wide association studies that aim at comparing CpG methylation between colorectal cancer (CRC) patients and controls can lead to the discovery of diagnostic or prognostic biomarkers. Numerous confounders can lead to spurious associations. We aimed to see if 5-fluorouracil (5-FU)/leucovorin chemot...


    pub_type: 杂志文章


    authors: Lemire M,Zaidi SH,Zanke BW,Gallinger S,Hudson TJ,Cleary SP

    更新日期:2015-12-01 00:00:00

  • Gene discovery and comparative analysis of X-degenerate genes from the domestic cat Y chromosome.

    abstract::Mammalian sex chromosomes are the remnants of an ancient autosomal pair present in the ancestral mammalian karyotype. As a consequence of random decay and chromosome rearrangements over evolutionary time, Y chromosome gene repertoires differ between eutherian lineages. To investigate the gene repertoire and transcript...


    pub_type: 杂志文章


    authors: Pearks Wilkerson AJ,Raudsepp T,Graves T,Albracht D,Warren W,Chowdhary BP,Skow LC,Murphy WJ

    更新日期:2008-11-01 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