Mouse lipocortin I gene structure and chromosomal assignment: gene duplication and the origins of a gene family.

abstract：:The use of round spermatids that are fully active at the transcriptional level to create zygotes (i.e. round spermatid injection; ROSI) raises the question regarding the downregulation of all specific genes that are transcribed from the paternal genome at fertilization. In this study, we show that protamine 1 and 2 mR...

journal_title：Genomics

authors： Borghol N,Blachère T,Lefèvre A

更新日期：2008-05-01 00:00:00

abstract：:Amyloid beta protein (beta A4), the major component of the core of amyloid plaques in Alzheimer disease, is derived from the transmembrane amyloid precursor proteins (APPs). Our recent studies showed that a murine member of the evolutionarily conserved APP family, amyloid precursor-like protein 1 (APLP1), is specifica...

journal_title：Genomics

authors： Zhong S,Wu K,Black IB,Schaar DG

更新日期：1996-02-15 00:00:00

abstract：:NotI and EagI boundary libraries were constructed for human chromosome 21. One hundred forty-seven clones were isolated from the somatic cell hybrid 72532X-6 and localized using a hybrid mapping panel. After identification of those clones, which were isolated more than once, as well as those probes derived from a prev...

journal_title：Genomics

authors： Gao JZ,Erickson P,Patterson D,Jones C,Drabkin H

更新日期：1991-05-01 00:00:00

abstract：:G-protein-coupled receptors (GPCRs) are important mediators of signal transduction, and mutations in GPCR-encoding genes can lead to disease states. Here we describe a null mutation in an orphan GPCR-encoding gene that is predicted to inactivate completely the encoded receptor. The TA(3) receptor is a putative member ...

journal_title：Genomics

authors： Vanti WB,Muglia P,Nguyen T,Cheng R,Kennedy JL,George SR,O'Dowd BF

更新日期：2003-11-01 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：:End sequences from bacterial artificial chromosomes (BACs) provide highly specific sequence markers in large-scale sequencing projects. To date, we have generated >300,000 end sequences from >186,000 human BAC clones with an average read length of >460 bp for a total of 141 Mb covering approximately 4.7% of the genome...

journal_title：Genomics

authors： Zhao S,Malek J,Mahairas G,Fu L,Nierman W,Venter JC,Adams MD

更新日期：2000-02-01 00:00:00

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

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

abstract：:Chimpanzees are naturally and asymptomatically infected by simian immunodeficiency virus (SIV). Pathogenic properties of SIV/HIV vary and differences in susceptibility and pathogenicity of SIV/HIV depend in part on host-specific factors such as virus-receptor/co-receptor interactions. Since CD4 plays a primary role in...

journal_title：Genomics

authors： Hvilsom C,Carlsen F,Siegismund HR,Corbet S,Nerrienet E,Fomsgaard A

更新日期：2008-11-01 00:00:00

abstract：:The gene encoding the human type I pituitary adenylate cyclase activating polypeptide receptor (ADCYAP1R1) was mapped to chromosome 7 by PCR analysis of genomic DNA from a human/rodent somatic cell hybrid mapping panel. This assignment was confirmed and the gene localized to chromosome band 7p14 by fluorescence in sit...

journal_title：Genomics

authors： Stoffel M,Espinosa R 3rd,Trabb JB,Le Beau MM,Bell GI

更新日期：1994-10-01 00:00:00

abstract：:The localization of a gene responsible for a normal variant of the human electroencephalogram to the distal part of chromosome 20q is reported. A linkage analysis, including 17 families with 191 individuals, tested with 73 RFLPs and 22 blood and serological markers, was performed for the low-voltage electroencephalogr...

journal_title：Genomics

authors： Steinlein O,Anokhin A,Yping M,Schalt E,Vogel F

更新日期：1992-01-01 00:00:00

abstract：:Usher syndrome type 1 (USH1) is an autosomal recessive, genetically heterogeneous disorder causing severe congenital deafness, retinitis pigmentosa, and vestibular dysfunction. The USHla locus located on 14q32 has been linked to the genetic markers D14S250 and D14S78. Using D14S250 and D14S78, we have isolated two non...

journal_title：Genomics

authors： Eudy JD,Ma-Edmonds M,Yao SF,Talmadge CB,Kelley PM,Weston MD,Kimberling WJ,Sumegi J

更新日期：1997-07-01 00:00:00

abstract：:Southern blot analysis of genomic DNA from different strains of rat indicated that there were multiple copies of the gene encoding the second enzyme of the heme biosynthetic pathway, delta-aminolevulinate dehydratase (ALA-D). Two types of genomic clones were isolated from a Sprague-Dawley rat library. One appears to b...

journal_title：Genomics

authors： Bishop TR,Frelin LP,Boyer SH

更新日期：1990-08-01 00:00:00

abstract：:Physical activity enhances muscle mitochondrial gene expression, while inactivity and mitochondrial dysfunction are both risk factors for developing diabetes. Defective activation of the transcriptional coactivator PGC-1alpha may contribute to the gene expression pattern observed in diabetic and insulin-resistant skel...

journal_title：Genomics

authors： Timmons JA,Norrbom J,Schéele C,Thonberg H,Wahlestedt C,Tesch P

更新日期：2006-01-01 00:00:00

abstract：:Human/rodent somatic cell hybrids have been exceedingly useful in assigning human genes and DNA sequences to specific human chromosomes. As new technologies for analyzing the human chromosome complement of such human/rodent hybrid cells become available, it is of critical importance that these be applied to enhance ch...

journal_title：Genomics

authors： Patterson D,Hart I,Lai LW,Brahe C,Moscetti A,Tassone F,Raimondi E,Jones C

更新日期：1993-01-01 00:00:00

abstract：:The adrenoleukodystrophy-related gene (ALDR, ABCD2) is a candidate modifier gene and a potential therapeutic target for X-linked adrenoleukodystrophy (ALD), a severe neurodegenerative disease. The ALDR gene is the closest homologue of the ALD gene, which encodes a peroxisomal ABC transporter involved in the catabolism...

journal_title：Genomics

authors： Pujol A,Troffer-Charlier N,Metzger E,Chimini G,Mandel JL

更新日期：2000-11-15 00:00:00

abstract：:Mutations in genes encoding polycystin-1 (PC1) and polycystin-2 cause autosomal dominant polycystic kidney disease. The polycystin protein family is composed of Ca2+-permeable pore-forming subunits and receptor-like integral membrane proteins. Here we describe a novel member of the polycystin-1-like subfamily, polycys...

journal_title：Genomics

authors： Yuasa T,Takakura A,Denker BM,Venugopal B,Zhou J

更新日期：2004-07-01 00:00:00

abstract：:The regional assignments of 30 expressed sequence tags (ESTs) on human chromosome 7 were determined by studying the segregation of their PCR-amplified products in a panel of mouse somatic cell hybrids. ESTs are important molecular landmarks for physical mapping and can be considered as tags to candidate genes for gene...

journal_title：Genomics

authors： Patel RJ,Keen TJ,Grzeschik KH,Nierman WC,Hayes P,Bhattacharya SS,Inglehearn CF

更新日期：1995-11-01 00:00:00

abstract：:Indolethylamine N-methyltransferase (INMT) catalyzes the N-methylation of tryptamine and structurally related compounds. We recently cloned and characterized the rabbit INMT cDNA and gene as a step toward cloning the cDNA and gene for this enzyme in humans. We have now used a PCR-based approach to clone a human INMT c...

journal_title：Genomics

authors： Thompson MA,Moon E,Kim UJ,Xu J,Siciliano MJ,Weinshilboum RM

更新日期：1999-11-01 00:00:00

abstract：:The retina and its adjacent supporting tissues - retinal pigmented epithelium (RPE) and choroid - are critical structures in human eyes required for normal visual perception. Abnormal changes in these layers have been implicated in diseases such as age-related macular degeneration and glaucoma. With the advent of high...

journal_title：Genomics

authors： Tian L,Kazmierkiewicz KL,Bowman AS,Li M,Curcio CA,Stambolian DE

更新日期：2015-05-01 00:00:00

abstract：:Coevolution of cellular genetic compartments is a fundamental aspect in eukaryotic genome evolution that becomes apparent in serious developmental disturbances after interspecific organelle exchanges. The genus Oenothera represents a unique, at present the only available, resource to study the role of the compartmenta...

journal_title：Genomics

authors： Mrácek J,Greiner S,Cho WK,Rauwolf U,Braun M,Umate P,Altstätter J,Stoppel R,Mlcochová L,Silber MV,Volz SM,White S,Selmeier R,Rudd S,Herrmann RG,Meurer J

更新日期：2006-09-01 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：:Monocyte chemotactic proteins (MCPs) form a subfamily of chemokines that recruit leukocytes to sites of inflammation and that may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. With the use of degenerate primers that were based on CC chemokine consensus sequence...

journal_title：Genomics

authors： Van Coillie E,Fiten P,Nomiyama H,Sakaki Y,Miura R,Yoshie O,Van Damme J,Opdenakker G

更新日期：1997-03-01 00:00:00

abstract：:Mutations in the DKC1 gene are responsible for causing X-linked recessive dyskeratosis congenita (DKC) and a more severe allelic variant of the disease, Hoyeraal-Hreidarsson syndrome. Both diseases are characterized by progressive and fatal bone marrow failure. The nucleolar protein dyskerin is the pseudouridine synth...

journal_title：Genomics

authors： Heiss NS,Bächner D,Salowsky R,Kolb A,Kioschis P,Poustka A

更新日期：2000-07-15 00:00:00

abstract：:Neurexins are neuron-specific vertebrate proteins with hundreds of differentially spliced isoforms that may function in synapse organization. We now show that Drosophila melanogaster and Caenorhabditis elegans express a single gene encoding only an alpha-neurexin, whereas humans and mice express three genes, each of w...

journal_title：Genomics

authors： Tabuchi K,Südhof TC

更新日期：2002-06-01 00:00:00

abstract：:lncRNAs are a class of transcriptional RNA molecules of >200 nucleotides in length. However, the overall expression pattern and function of lncRNAs in sheep muscle is not clear. Here, we identified 1566 lncRNAs and 404 differentially expressed lncRNAs in sheep muscle from prenatal (110 days of fetus) and postnatal (2 ...

journal_title：Genomics

authors： Li CY,Li X,Liu Z,Ni W,Zhang X,Hazi W,Ma Q,Zhang Y,Cao Y,Qi J,Yao Y,Feng L,Wang D,Hou X,Yu S,Liu L,Zhang M,Hu S

更新日期：2019-03-01 00:00:00

abstract：:Evi9, a common site of retroviral integration in BXH2 murine myeloid leukemias, encodes a C2H2 zinc finger protein and is overexpressed in these leukemic cells. To investigate a possible role of EVI9 in the human hematopoietic system, we isolated the cDNA clone of the human homologue. Human EVI9, located on the chromo...

journal_title：Genomics

authors： Saiki Y,Yamazaki Y,Yoshida M,Katoh O,Nakamura T

更新日期：2000-12-15 00:00:00

abstract：:DNA libraries often contain very large numbers of clones (from 1000 up to 700,000). Since at present it is impossible to analyze all of these clones, usually statistical samples comprising less than 100 clones are tested. The quality of the library is then assessed by linear extrapolation. Occasionally, full coverage ...

journal_title：Genomics

authors： Köllner M,Greulich KO

更新日期：1994-09-01 00:00:00

abstract：:Nitric oxide (NO) is an important molecular messenger regulating the functions of a wide variety of cells and tissues. NO is synthesized from L-arginine by a variety of isoforms of the enzyme nitric oxide synthase (NOS). We have used Southern blotting analysis on DNAs obtained from a panel of human-rodent hybrid cell ...

journal_title：Genomics

authors： Xu W,Charles IG,Moncada S,Gorman P,Sheer D,Liu L,Emson P

更新日期：1994-05-15 00:00:00

abstract：:The alpha 1 subunit genes encoding voltage-dependent Ca2+ channels are members of a gene family. We have used human brain cDNA probes to localize the neuronal isoform genes CACNL1A4 (alpha 1A), CACNL1A5 (alpha 1B), and CACNL1A6 (alpha 1E) to 19p13, 9q34, and 1q25-q31, respectively, using fluorescence in situ hybridiza...

journal_title：Genomics

authors： Diriong S,Lory P,Williams ME,Ellis SB,Harpold MM,Taviaux S

更新日期：1995-12-10 00:00:00

abstract：:A cDNA clone encoding the major antigen (CDR62) associated with the antibody-induced paraneoplastic cerebellar degeneration has been used to identify the chromosomal location of the corresponding structural gene(s) by screening for its retention in a panel of rodent-human somatic cell hybrids. Having established the s...

journal_title：Genomics

authors： Gress T,Baldini A,Rocchi M,Furneaux H,Posner JB,Siniscalco M

更新日期：1992-08-01 00:00:00