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

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...

journal_title：Genomics

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

更新日期：2020-10-01 00:00:00

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 ...

journal_title：Genomics

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

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...

journal_title：Genomics

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

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...

journal_title：Genomics

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

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...

journal_title：Genomics

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

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 ...

journal_title：Genomics

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

更新日期：2006-09-01 00:00:00

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...

journal_title：Genomics

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

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...

journal_title：Genomics

authors： Lu AL,Hsu IC

更新日期：1992-10-01 00:00:00

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....

journal_title：Genomics

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

更新日期：1996-02-01 00:00:00

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 ...

journal_title：Genomics

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

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...

journal_title：Genomics

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

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 ...

journal_title：Genomics

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

更新日期：1994-01-15 00:00:00

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...

journal_title：Genomics

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

更新日期：1997-12-01 00:00:00

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...

journal_title：Genomics

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

更新日期：1996-08-15 00:00:00

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...

journal_title：Genomics

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

更新日期：1994-04-01 00:00:00

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...

journal_title：Genomics

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

更新日期：2001-03-15 00:00:00

abstract：:We have determined the cDNA and genomic structure of a gene (-14 gene) that lies adjacent to the human alpha-globin cluster. Although it is expressed in a wide range of cell lines and tissues, a previously described erythroid-specific regulatory element that controls expression of the alpha-globin genes lies within in...

journal_title：Genomics

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

更新日期：1995-10-10 00:00:00

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 ...

journal_title：Genomics

authors： Illenye S,Heintz NH

更新日期：2004-01-01 00:00:00

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...

journal_title：Genomics

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

更新日期：2006-12-01 00:00:00

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...

journal_title：Genomics

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

更新日期：2010-08-01 00:00:00

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...

journal_title：Genomics

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

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...

journal_title：Genomics

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

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

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

更新日期：1997-06-15 00:00:00

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 ...

journal_title：Genomics

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

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 ...

journal_title：Genomics

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

更新日期：2014-01-01 00:00:00

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 ...

journal_title：Genomics

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

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...

journal_title：Genomics

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

更新日期：1992-10-01 00:00:00

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...

journal_title：Genomics

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

更新日期：2015-12-01 00:00:00

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...

journal_title：Genomics

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

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...

journal_title：Genomics

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

更新日期：2013-10-01 00:00:00