Genomes and Genes
Experts and Doctors on molecular sequence data in Houston, United States
Locale: Houston, United States
Topic: molecular sequence data
- Qian S, Varjavand B, Pirrotta V. Molecular analysis of the zeste-white interaction reveals a promoter-proximal element essential for distant enhancer-promoter communication. Genetics. 1992;131:79-90 pubmed..This element may serve as an anchor to stabilize formation of a loop that brings the enhancer to the vicinity of the promoter. ..
- Sohocki M, Bowne S, Sullivan L, Blackshaw S, Cepko C, Payne A, et al. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet. 2000;24:79-83 pubmed..AIPL1 mutations may cause approximately 20% of recessive LCA, as disease-causing mutations were identified in 3 of 14 LCA families not tested previously for linkage. ..
- Reecy J, Li X, Yamada M, DeMayo F, Newman C, Harvey R, et al. Identification of upstream regulatory regions in the heart-expressed homeobox gene Nkx2-5. Development. 1999;126:839-49 pubmed..Dissection of these elements should reveal essential features of cardiac induction and positive and negative signaling within the cardiac field. ..
- Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, et al. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 1995;81:15-25 pubmed..These data indicate that CDPX is caused by an inherited deficiency of a novel sulfatase and suggest that warfarin embryopathy might involve drug-induced inhibition of the same enzyme...
- Hughes M, Malloy P, Kieback D, Kesterson R, Pike J, Feldman D, et al. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science. 1988;242:1702-5 pubmed..The produced protein is biochemically indistinguishable from the receptor isolated from patients. ..
- Lee T, Ding T, Chen Z, Rajendran V, Scherr H, Lackey M, et al. The E1 ubiquitin-activating enzyme Uba1 in Drosophila controls apoptosis autonomously and tissue growth non-autonomously. Development. 2008;135:43-52 pubmed..In summary, the phenotypic analysis of Uba1 demonstrates that impaired ubiquitin conjugation has significant consequences for the organism, and may implicate Uba1 as a tumor suppressor gene. ..
- Fu X, Yucer N, Liu S, Li M, Yi P, Mu J, et al. RFWD3-Mdm2 ubiquitin ligase complex positively regulates p53 stability in response to DNA damage. Proc Natl Acad Sci U S A. 2010;107:4579-84 pubmed publisher..Our study identifies RFWD3 as a positive regulator of p53 stability when the G(1) cell cycle checkpoint is activated and provides an explanation for how p53 is protected from degradation in the presence of high levels of Mdm2. ..
- al Ubaidi M, Ramamurthy V, Maa M, Ingolia D, Chinsky J, Martin B, et al. Structural and functional analysis of the murine adenosine deaminase gene. Genomics. 1990;7:476-85 pubmed..During the course of these investigations, we discovered that a gene encoding an abundant 1.3-kb polyadenylated transcript overlaps the 3' end of the murine adenosine deaminase gene and is transcribed from the opposite strand. ..
- Fabiny J, Jayakumar A, Chinault A, Barnes E. Ammonium transport in Escherichia coli: localization and nucleotide sequence of the amtA gene. J Gen Microbiol. 1991;137:983-9 pubmed..Hydropathic analysis of the inferred amino acid sequence of the gene product predicts that amtA encodes a cytoplasmic component of the ammonium transport system. ..
- Song Y, Endepols S, Klemann N, Richter D, Matuschka F, Shih C, et al. Adaptive introgression of anticoagulant rodent poison resistance by hybridization between old world mice. Curr Biol. 2011;21:1296-301 pubmed publisher..spretus, which crossed a species barrier and produced an adaptive polymorphic trait in the recipient species, M. m. domesticus. ..
- Reichardt J, Levy H, Woo S. Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. Biochemistry. 1992;31:5430-3 pubmed..Our data further support the notion of molecular heterogeneity of galactosemia and suggest that galactosemia mutations and GALT polymorphisms may be useful tools in highlighting different functional domains in human GALT...
- Spencer T, Jenster G, Burcin M, Allis C, Zhou J, Mizzen C, et al. Steroid receptor coactivator-1 is a histone acetyltransferase. Nature. 1997;389:194-8 pubmed....
- Lee C, Wu X, Gibbs R, Cook R, Muzny D, Caskey C. Generation of cDNA probes directed by amino acid sequence: cloning of urate oxidase. Science. 1988;239:1288-91 pubmed..A cDNA probe developed by this procedure was used to isolate a full-length porcine urate oxidase cDNA and to demonstrate the presence of homologous genomic sequences in humans. ..
- Bawa Khalfe T, Cheng J, Wang Z, Yeh E. Induction of the SUMO-specific protease 1 transcription by the androgen receptor in prostate cancer cells. J Biol Chem. 2007;282:37341-9 pubmed..Because increased SENP1 expression directly modulated androgen receptor-dependent cell proliferation and transcription, SENP1 could play an important role in prostate carcinogenesis. ..
- Ginger M, Shore A, Contreras A, Rijnkels M, Miller J, Gonzalez Rimbau M, et al. A noncoding RNA is a potential marker of cell fate during mammary gland development. Proc Natl Acad Sci U S A. 2006;103:5781-6 pubmed..This is one of the first reports describing the functional properties of a large, developmentally regulated, mammalian, noncoding RNA. ..
- Hixson P, Smith C, Shurin S, Tosi M. Unique CD18 mutations involving a deletion in the extracellular stalk region and a major truncation of the cytoplasmic domain in a patient with leukocyte adhesion deficiency type 1. Blood. 2004;103:1105-13 pubmed..Studies with the patient's neutrophils (PMNs) were consistent with functional impairment of LFA-1 but not of Mac-1. ..
- Parrish J, Oostra B, Verkerk A, Richards C, Reynolds J, Spikes A, et al. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet. 1994;8:229-35 pubmed..By sequence analysis, the expanded region contains a GCC repeat. PCR and sequence analysis of chromosomes from the general population indicates that the repeat is polymorphic (6 to 29 triplets), and is stable upon transmission...
- Vermersch P, Tesmer J, Lemon D, Quiocho F. A Pro to Gly mutation in the hinge of the arabinose-binding protein enhances binding and alters specificity. Sugar-binding and crystallographic studies. J Biol Chem. 1990;265:16592-603 pubmed..Stabilizing contacts are formed between the strands of the hinge in the Gly-254 ABP when galactose is bound which are not found in complexes with the other sugars or the liganded wild-type protein. ..
- Huang M, Elledge S. Identification of RNR4, encoding a second essential small subunit of ribonucleotide reductase in Saccharomyces cerevisiae. Mol Cell Biol. 1997;17:6105-13 pubmed..Analysis of DNA damage inducibility of RNR2 and RNR4 revealed partial inducibility in dun1 mutants, indicating a DUN1-independent branch of the transcriptional response to DNA damage. ..
- Sanders W, Wilson R, Ballantyne C, Beaudet A. Molecular cloning and analysis of in vivo expression of murine P-selectin. Blood. 1992;80:795-800 pubmed..After administration of endotoxin, the highest levels of mRNA expression were detected in liver, lung, kidney, and heart. ..
- Adachi R, Nigam R, Tuvim M, DeMayo F, Dickey B. Genomic organization, chromosomal localization, and expression of the murine RAB3D gene. Biochem Biophys Res Commun. 2000;273:877-83 pubmed..Rab3D is expressed in all tissues studied, predominantly in heart, lung, and liver, and binding sites for multiple transcription factors are found in the TATA-less promoter region. ..
- Ren C, Li L, Goltsov A, Timme T, Tahir S, Wang J, et al. mRTVP-1, a novel p53 target gene with proapoptotic activities. Mol Cell Biol. 2002;22:3345-57 pubmed..Deletion of the signal peptide from the N terminus of RTVP-1 reduced its apoptotic activities, suggesting that a secreted and soluble form of RTVP-1 may mediate, in part, its proapoptotic activities. ..
- So R, Gonzales B, Henning D, Dixon J, Dixon M, Valdez B. Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene. 2004;328:49-57 pubmed..The discovery of exons 6A and 16A is relevant to mutational analysis of the TCOF1 gene in TCS patients, and to functional analysis of its gene product...
- Li H, Choudhary S, Milner D, Munir M, Kuisk I, Capetanaki Y. Inhibition of desmin expression blocks myoblast fusion and interferes with the myogenic regulators MyoD and myogenin. J Cell Biol. 1994;124:827-41 pubmed..These data suggested that myogenesis is modulated by at least more than one pathway and desmin, which so far was believed to be merely an architectural protein, seems to play a key role in this process. ..
- Schulz R, The S, Hogue D, Galewsky S, Guo Q. Ets oncogene-related gene Elg functions in Drosophila oogenesis. Proc Natl Acad Sci U S A. 1993;90:10076-80 pubmed....
- Liu L, Vo A, McKeehan W. Specificity of the methylation-suppressed A isoform of candidate tumor suppressor RASSF1 for microtubule hyperstabilization is determined by cell death inducer C19ORF5. Cancer Res. 2005;65:1830-8 pubmed..This confers specificity on RASSF1A in microtubule hyperstabilization and accumulation of C19ORF5 on microtubules and could underlie a specific effect of hypermethylation-suppressed RASSF1A in tumor suppression. ..
- Ono T, Slaughter G, Cook R, Means A. Molecular cloning sequence and distribution of rat calspermin, a high affinity calmodulin-binding protein. J Biol Chem. 1989;264:2081-7 pubmed..Analysis of cells isolated from rat testis reveals calspermin mRNA to be predominantly expressed in postmeiotic cells indicating that it may be specific to haploid cells. ..
- Yu L, Chang T. Human mb-1 gene: complete cDNA sequence and its expression in B cells bearing membrane Ig of various isotypes. J Immunol. 1992;148:633-7 pubmed..It has also been observed that human mb-1 is expressed not only by B cell lines expressing membrane-bound Ig of mu and delta isotypes but also those expressing membrane-bound Ig of alpha and gamma isotypes. ..
- Kobayashi K, Jackson M, Tick D, O Brien W, Beaudet A. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. J Biol Chem. 1990;265:11361-7 pubmed..There is extreme heterogeneity of mutations causing citrulinemia. This heterogeneity may prove typical for less common autosomal recessive human genetic diseases. ..
- Wu Y, Badano J, McCaskill C, Vogel H, Potocki L, Shaffer L. Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. Am J Hum Genet. 2000;67:1327-32 pubmed..2, with hemizygosity in patients with deletion of 11p11.2 who have biparietal foramina, support the contention that ALX4 is a candidate gene for the PFM in the 11p11.2-deletion syndrome. ..
- Katsanis N, Beales P, Woods M, Lewis R, Green J, Parfrey P, et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000;26:67-70 pubmed..Our data suggest that a complete loss of function of the MKKS product, and thus an inability to fold a range of target proteins, is responsible for the clinical manifestations of BBS. ..
- Kamitani T, Nguyen H, Kito K, Fukuda Kamitani T, Yeh E. Covalent modification of PML by the sentrin family of ubiquitin-like proteins. J Biol Chem. 1998;273:3117-20 pubmed..Thus differential sentrinization of PML and PML-RARalpha could play an important role in regulating the biological function of PML and in the pathogenesis of acute promyelocytic leukemia. ..
- Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton D, Amos C, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997;15:62-9 pubmed..We conclude that a small polyglutamine expansion in the human alpha 1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6. ..
- Cannon J, Colicos S, Belmont J. Gene trap screening using negative selection: identification of two tandem, differentially expressed loci with potential hematopoietic function. Dev Genet. 1999;25:49-63 pubmed..The FIAU sensitivity of hematopoiesis in F3 embryoid bodies may result from expression of galtek during the formation of early hematopoietic cells, directed by regulatory signals from one or both of these endogenous loci. ..
- Chang T, Yamashita A, Chen C, Yamashita Y, Zhu W, Durdan S, et al. UNR, a new partner of poly(A)-binding protein, plays a key role in translationally coupled mRNA turnover mediated by the c-fos major coding-region determinant. Genes Dev. 2004;18:2010-23 pubmed..This study provides new insights into a mechanism by which interplay between mRNA turnover and translation determines the lifespan of an mCRD-containing mRNA in the cytoplasm. ..
- Cai X, Bennett G. Improving the Clostridium acetobutylicum butanol fermentation by engineering the strain for co-production of riboflavin. J Ind Microbiol Biotechnol. 2011;38:1013-25 pubmed publisher..acetobutylicum ATCC 824(pJpGN) could accumulate more than 70 mg/l riboflavin while producing 190 mM butanol in static cultures. Riboflavin production was shown to exert no effect on solvent production at these levels...
- Schumacher M, Seidel G, Hillen W, Brennan R. Phosphoprotein Crh-Ser46-P displays altered binding to CcpA to effect carbon catabolite regulation. J Biol Chem. 2006;281:6793-800 pubmed..This latter finding demonstrates that this contact region is necessary and sufficient to throw the allosteric switch to activate cre binding by CcpA. ..
- Adams M, Wang B, Xia Z, Morales J, Lu X, Donehower L, et al. 53BP1 oligomerization is independent of its methylation by PRMT1. Cell Cycle. 2005;4:1854-61 pubmed..Lastly, we find that deficiencies in 53BP1 generate a "hyper-rec" phenotype. Collectively, these data provide new insight into 53BP1, an important component in maintaining genomic stability. ..
- Lyons J, Mueller U, Ji H, Everett C, Fang X, Hsieh J, et al. Wnt-4 activates the canonical beta-catenin-mediated Wnt pathway and binds Frizzled-6 CRD: functional implications of Wnt/beta-catenin activity in kidney epithelial cells. Exp Cell Res. 2004;298:369-87 pubmed....
- Rodgers J, Mehta V, Cook R. Surface expression of beta 2-microglobulin-associated thymus-leukemia antigen is independent of TAP2. Eur J Immunol. 1995;25:1001-7 pubmed..These results suggest that while TL may normally acquire TAP2-dependent peptides, this class I-b molecule does not require them for efficient export to, and stable expression at the cell surface...
- Oka K, Ishimura Oka K, Chu M, Sullivan M, Krushkal J, Li W, et al. Mouse very-low-density-lipoprotein receptor (VLDLR) cDNA cloning, tissue-specific expression and evolutionary relationship with the low-density-lipoprotein receptor. Eur J Biochem. 1994;224:975-82 pubmed....
- Davis B, Cook R, Rich R, Rodgers J. Hyperconservation of the putative antigen recognition site of the MHC class I-b molecule TL in the subfamily Murinae: evidence that thymus leukemia antigen is an ancient mammalian gene. J Immunol. 2002;169:6890-9 pubmed..Our results strengthen the hypotheses that TL has evolved a specialized function and represents an ancient MHC class I-b gene. ..
- Lilly B, Zhao B, Ranganayakulu G, Paterson B, Schulz R, Olson E. Requirement of MADS domain transcription factor D-MEF2 for muscle formation in Drosophila. Science. 1995;267:688-93 pubmed..These results demonstrate that different muscle cell types share a common myogenic differentiation program controlled by MEF2. ..
- Lau P, Chan L. Involvement of a chaperone regulator, Bcl2-associated athanogene-4, in apolipoprotein B mRNA editing. J Biol Chem. 2003;278:52988-96 pubmed....
- Roy A, Yan W, Burns K, Matzuk M. Tektin3 encodes an evolutionarily conserved putative testicular microtubules-related protein expressed preferentially in male germ cells. Mol Reprod Dev. 2004;67:295-302 pubmed..Our studies demonstrate that TEKTIN3 is a novel evolutionarily conserved male germ cell-enriched protein and suggest that it might perform important roles in male reproductive development and physiology. ..
- Shigaki T, Hirschi K. Characterization of CAX-like genes in plants: implications for functional diversity. Gene. 2000;257:291-8 pubmed..These results imply that CAX-like genes may have functions in plant ion homeostasis that differ from those of previously characterized CAX genes. ..
- Yang C, Gu Z, Yang H, Rohde M, Gotto A, Pownall H. Structure of bovine milk lipoprotein lipase. J Biol Chem. 1989;264:16822-7 pubmed..The chymotrypsin nick of bLPL was determined to be between residues 390 and 391. A model of the enzyme is proposed on the basis of our data and available chemical data. ..
- Brewster J, de Valoir T, Dwyer N, Winter E, Gustin M. An osmosensing signal transduction pathway in yeast. Science. 1993;259:1760-3 pubmed..These data define a signal transduction pathway that is activated by changes in the osmolarity of the extracellular environment. ..
- Rugarli E, Lutz B, Kuratani S, Wawersik S, Borsani G, Ballabio A, et al. Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nat Genet. 1993;4:19-26 pubmed..We propose a model in which the Kallmann syndrome gene product is a signal molecule required for neuronal targeting throughout life...
- Edmondson D, Olson E. A gene with homology to the myc similarity region of MyoD1 is expressed during myogenesis and is sufficient to activate the muscle differentiation program. Genes Dev. 1989;3:628-40 pubmed..Together, these results suggest the existence of a family of myogenic regulatory genes that share a conserved motif with c-myc. ..
- Thomas P, Cote G, Wohllk N, Haddad B, Mathew P, Rabl W, et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science. 1995;268:426-9 pubmed..Both mutations resulted in aberrant processing of the RNA sequence and disruption of the putative second nucleotide binding domain of the SUR protein. Abnormal insulin secretion in PHHI appears to be caused by mutations in the SUR gene...
- Roa B, Garcia C, Pentao L, Killian J, Trask B, Suter U, et al. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet. 1993;5:189-94 pubmed....
- Atassi M, Dolimbek G, Deitiker P, Aoki K, Dolimbek B. Submolecular recognition profiles in two mouse strains of non-protective and protective antibodies against botulinum neurotoxin A. Mol Immunol. 2005;42:1509-20 pubmed..Protection was mostly associated with the immunoglobulin class of the antibodies. IgM antibodies were non-protective, while IgG Abs produced after the switch were protective. ..
- Kawashima H, Strobel H. cDNA cloning of a novel rat brain cytochrome P450 belonging to the CYP2D subfamily. Biochem Biophys Res Commun. 1995;209:535-40 pubmed..However, it is noteworthy that the expression of 2d-35 was not detected in the liver but in the brain. These results suggest that a novel P450 is expressed in the brain under different regulation. ..
- Scotcher M, Bennett G. SpoIIE regulates sporulation but does not directly affect solventogenesis in Clostridium acetobutylicum ATCC 824. J Bacteriol. 2005;187:1930-6 pubmed publisher..These results suggest that SpoIIE has no direct effect on the control of solventogenesis and that the changes in solvent production in spoIIE-downregulated cells are mediated by effects on the cell during sporulation...
- Li L, Zhou J, James G, Heller Harrison R, Czech M, Olson E. FGF inactivates myogenic helix-loop-helix proteins through phosphorylation of a conserved protein kinase C site in their DNA-binding domains. Cell. 1992;71:1181-94 pubmed..These results establish a direct link between the signal transduction pathways that inhibit myogenesis and the transcription factors directly activating muscle-specific genes. ..
- Tseng C, Hughes M, Hsu P, Mahoney S, Duvic M, Sell S. Syphilis superinfection activates expression of human immunodeficiency virus I in latently infected rabbits. Am J Pathol. 1991;138:1149-64 pubmed..It is hypothesized that true latent HIV-infection in the rabbits is in monocytes and postulated that further immunostimulation may produce infection of lymphocytes and activation of disease...
- Sen S, Zhou H, Ripmaster T, Hittelman W, Schimmel P, White R. Expression of a gene encoding a tRNA synthetase-like protein is enhanced in tumorigenic human myeloid leukemia cells and is cell cycle stage- and differentiation-dependent. Proc Natl Acad Sci U S A. 1997;94:6164-9 pubmed....
- Atassi M, Jankovic J, Steward L, Aoki K, Dolimbek B. Molecular immune recognition of botulinum neurotoxin B. The light chain regions that bind human blocking antibodies from toxin-treated cervical dystonia patients. Antigenic structure of the entire BoNT/B molecule. Immunobiology. 2012;217:17-27 pubmed publisher..With the previous localization of the antigenic regions on the BoNT/B H chain, the human Ab recognition of the entire BoNT/B molecule is presented and compared to the recognition of BoNT/A by human blocking Abs. ..
- Taguchi H, Planque S, Sapparapu G, Boivin S, Hara M, Nishiyama Y, et al. Exceptional amyloid beta peptide hydrolyzing activity of nonphysiological immunoglobulin variable domain scaffolds. J Biol Chem. 2008;283:36724-33 pubmed publisher..In view of their superior catalytic activity, the VL domain IgVs may help attain clearance of medically important antigens more efficiently than natural Igs. ..
- Choi W, Folsom M, Azim M, Meyer C, Kowarz E, Marschalek R, et al. C/EBPbeta suppression by interruption of CUGBP1 resulting from a complex rearrangement of MLL. Cancer Genet Cytogenet. 2007;177:108-14 pubmed..This is the first report to describe insertional disruption of the CUGBP1 gene and to suggest a role for the CUGBP1-C/EBPbeta pathway in leukemogenesis. ..
- Bergmann A, Lane M. HIDden targets of microRNAs for growth control. Trends Biochem Sci. 2003;28:461-3 pubmed..Recent advances in Drosophila research have implicated a microRNA as an important regulator of animal size. These studies reveal an unexpected layer of size regulation in higher animals. ..