Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.


:By direct sequence analysis of 94 mutant phenylalanine hydroxylase alleles using polymerase chain reaction-based techniques, we identified a C to T transition in exon 7 of the human phenylalanine hydroxylase gene that is associated with RFLP haplotypes 1 and 4. A leucine for proline substitution at position 281 can be predicted from the nucleotide sequence of the mutant codon. Expression analysis in cultured mammalian cells after site-directed mutagenesis proved that the base substitution is a disease causing gene lesion. Dot-blot hybridization analysis using allele-specific oligonucleotides revealed that 25% of all mutant haplotype 1 alleles in the German population bear this mutation. In addition, this mutation could be detected on one mutant haplotype 4 allele. The fact that this mutation is associated with only 25% of all mutant haplotype 1 alleles suggests that multiple mutations may be associated with this haplotype. The occurrence of several different mutations would be in agreement with the clinical heterogeneity observed in the group of patients whose PKU alleles belong to haplotype 1.






Dworniczak B,Grudda K,Stümper J,Bartholomé K,Aulehla-Scholz C,Horst J




Has Abstract


1991-01-01 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

  • Cloning and identification of two novel NBCe1 splice variants from mouse reproductive tract tissues: a comparative study of NCBT genes.

    abstract::Na(+)-coupled HCO(3)(-) transporters (NCBTs) of the SLC4 family play critical roles in pH regulation as well as transepithelial HCO(3)(-) transport. We systematically examined, in the mouse reproductive tract tissues, the mRNA expression of five NCBTs as well as the five NBCe1 (Slc4a4) variants NBCe1-A through -E, of ...


    pub_type: 杂志文章


    authors: Liu Y,Xu JY,Wang DK,Wang L,Chen LM

    更新日期:2011-08-01 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

  • Contiguous localization of the genes encoding human insulin-like growth factor binding proteins 1 (IGBP1) and 3 (IGBP3) on chromosome 7.

    abstract::In extracellular fluids the insulin-like growth factors (IGFs) are bound to specific binding proteins (IGBPs). The genes for two members of this protein family have been mapped, the IGBP1 gene to human chromosomal region 7p14-p12 and the IGBP2 gene to region 2q33-q34. In this study, somatic cell hybrid analysis indica...


    pub_type: 杂志文章


    authors: Ehrenborg E,Larsson C,Stern I,Janson M,Powell DR,Luthman H

    更新日期:1992-03-01 00:00:00

  • ReTRN: a retriever of real transcriptional regulatory network and expression data for evaluating structure learning algorithm.

    abstract::One of the important goals in systems biology is to infer transcription network based on gene expression data. Validation of the reconstructed network often requires benchmark datasets, e.g. gene expression data, which are usually unattainable. Synthetic datasets are therefore often needed to test the structure learni...


    pub_type: 杂志文章


    authors: Li Y,Zhu Y,Bai X,Cai H,Ji W,Guo D

    更新日期:2009-11-01 00:00:00

  • Identification and characterization of a cDNA and the structural gene encoding the mouse epithelial membrane protein-1.

    abstract::The PMP22/EMP/MP20 gene family includes four closely related proteins, peripheral myelin protein-22 (PMP22), epithelial membrane protein-1 (EMP-1), epithelial membrane protein-2 (EMP-2), and epithelial membrane protein-3 (EMP-3), which share amino acid identities ranging from 33 to 43%. In addition, the lens-specific ...


    pub_type: 杂志文章


    authors: Lobsiger CS,Magyar JP,Taylor V,Wulf P,Welcher AA,Program AE,Suter U

    更新日期:1996-09-15 00:00:00

  • Transcriptome sequencing of Chinese and Caucasian population identifies ethnic-associated differential transcript abundance of heterogeneous nuclear ribonucleoprotein K (hnRNPK).

    abstract::Gene expression variations (GEV) among different ethnic groups have been a subject matter for extensive study. Relatively less known is the extent of alternative splicing variations (ASV) in the context of ethnicity. We conducted a transcriptome sequencing study of 20 lymphoblastoid cell lines obtained from Caucasian ...


    pub_type: 杂志文章


    authors: Li JW,Lai KP,Ching AK,Chan TF

    更新日期:2014-01-01 00:00:00

  • Subregional localization of 20 single-copy loci to chromosome 6 by fluorescence in situ hybridization.

    abstract::Although 338 genetic loci and 1 or more candidate tumor suppressor genes have been assigned to chromosome 6, the physical and genetic map of this chromosome is at a very preliminary stage. In this study, we have performed subregional localization of 20 single-copy DNA sequences previously assigned to chromosome 6 usin...


    pub_type: 杂志文章


    authors: Rao PH,Murty VV,Gaidano G,Hauptschein R,Dalla-Favera R,Chaganti RS

    更新日期:1993-05-01 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

  • Molecular cloning of the mouse AMY-1 gene and identification of the synergistic activation of the AMY-1 promoter by GATA-1 and Sp1.

    abstract::We have reported that a novel c-Myc binding protein, AMY-1, stimulated the transcription activity of c-Myc and was translocated from the cytoplasm to the nucleus in a c-Myc-dependent manner. AMY-1 works as an inducer of human K562 cell differentiation upon induction of AraC. To characterize the expression or functiona...


    pub_type: 杂志文章


    authors: Furusawa M,Taira T,Iguchi-Ariga SM,Ariga H

    更新日期:2003-02-01 00:00:00

  • Molecular characterization of human neogenin, a DCC-related protein, and the mapping of its gene (NEO1) to chromosomal position 15q22.3-q23.

    abstract::Neogenin was first identified in the chick embryo, and like a number of cell surface proteins of the immunoglobulin (Ig) superfamily, including N-CAM and L1 (generally called cell adhesion molecules or CAMs), it is expressed on growing nerve cells in the developing nervous system of vertebrate embryos. Neogenin is als...


    pub_type: 杂志文章


    authors: Vielmetter J,Chen XN,Miskevich F,Lane RP,Yamakawa K,Korenberg JR,Dreyer WJ

    更新日期:1997-05-01 00:00:00

  • Human phenol sulfotransferase STP2 gene: molecular cloning, structural characterization, and chromosomal localization.

    abstract::Sulfonation is an important pathway in the biotransformation of many drugs, xenobiotics, neurotransmitters, and steroid hormones. The thermostable (TS) form of phenol sulfotransferase (PST) preferentially catalyzes the sulfonation of "simple" planar phenols, and levels of activity of TS PST in human tissues are contro...


    pub_type: 杂志文章


    authors: Her C,Raftogianis R,Weinshilboum RM

    更新日期:1996-05-01 00:00:00

  • Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital image analysis.

    abstract::We used fluorescence in situ hybridization and digital image analysis to localize cosmids along human chromosome 17. Seventy-one cosmids were selected at random from a chromosome 17 library constructed from a partial Sau3AI digest of flow-sorted chromosomes from a mouse-human hybrid cell line. Sixty-three of these (89...


    pub_type: 杂志文章


    authors: Kallioniemi OP,Kallioniemi A,Mascio L,Sudar D,Pinkel D,Deaven L,Gray J

    更新日期:1994-03-01 00:00:00

  • Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.

    abstract::We investigated a family with a duplication, dup(X)q26-q27, that was present in two brothers, their mother, and their maternal grandmother. The brothers carrying the duplication displayed spina bifida and panhypopituitarism, whereas a third healthy brother inherited the normal X chromosome. Preferential inactivation o...


    pub_type: 杂志文章


    authors: Hol FA,Schepens MT,van Beersum SE,Redolfi E,Affer M,Vezzoni P,Hamel BC,Karnes PS,Mariman EC,Zucchi I

    更新日期:2000-10-15 00:00:00

  • Molecular cloning and characterization of canine ICOS.

    abstract::Inducible costimulatory receptor (ICOS) is one recently identified member of the CD28 family of costimulatory molecules. Evidence suggests ICOS functions as a critical immune regulator and, to evaluate these effects, we employed the canine model system that has been used to develop strategies currently in clinical use...


    pub_type: 杂志文章


    authors: Lee JH,Joo YD,Yim D,Lee R,Ostrander EA,Loretz C,Little MT,Storb R,Kuhr CS

    更新日期:2004-10-01 00:00:00

  • Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis.

    abstract::In this study, through linkage analysis of a four-generation Chinese family with multiple members afflicted with DGI (type II), we identified a novel missense mutation in DSPP. The mutation was located in exon 2 at the second nucleotide position of the last codon and resulted in a substitution of a proline with a leuc...


    pub_type: 杂志文章


    authors: Li D,Du X,Zhang R,Shen B,Huang Y,Valenzuela RK,Wang B,Zhao H,Liu Z,Li J,Xu Z,Gao L,Ma J

    更新日期:2012-04-01 00:00:00

  • A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences.

    abstract::We have constructed a high-resolution map of a 6-Mb interval of human chromosome 5, band q31, incorporating 175 sequence tagged sites, of which 33 are genetic polymorphisms and 122 are nonredundant expressed sequences. The map was assembled initially as a YAC contig, incorporating data from radiation hybrid maps. To i...


    pub_type: 杂志文章


    authors: Horrigan SK,Bartoloni L,Speer MC,Fulton N,Kravarusic J,Ramesar R,Vance JM,Yamaoka LH,Westbrook CA

    更新日期:1999-04-01 00:00:00

  • Cloning and chromosomal mapping of three novel genes, GPR9, GPR10, and GPR14, encoding receptors related to interleukin 8, neuropeptide Y, and somatostatin receptors.

    abstract::We employed the polymerase chain reaction and genomic DNA library screening to clone novel human genes, GPR9 and GPR10, and a rat gene, GPR14. GPR9, GPR10, and GPR14 each encode G protein-coupled receptors. GPR10 and GPR14 are intronless within their coding regions, while GPR9 contains at least one intron. The recepto...


    pub_type: 杂志文章


    authors: Marchese A,Heiber M,Nguyen T,Heng HH,Saldivia VR,Cheng R,Murphy PM,Tsui LC,Shi X,Gregor P

    更新日期:1995-09-20 00:00:00

  • Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

    abstract::We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the insertion of a cytosine nucleotide in exon 13 in an Italian patient (CF252...


    pub_type: 杂志文章


    authors: White MB,Krueger LJ,Holsclaw DS Jr,Gerrard BC,Stewart C,Quittell L,Dolganov G,Baranov V,Ivaschenko T,Kapronov NI

    更新日期:1991-05-01 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

  • Exploring the multi-drug resistance in Escherichia coli O157:H7 by gene interaction network: A systems biology approach.

    abstract::In the present study, we have constructed an interaction network of 29 antibiotic resistant genes along with 777 interactions in E. coli O157:H7. Gene ontology analysis reveals that 94, 89 and 67 genes have roles in the cellular process, biological process and molecular function respectively. Gene complexes related to...


    pub_type: 杂志文章


    authors: Miryala SK,Ramaiah S

    更新日期:2019-07-01 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

  • Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit.

    abstract::Hemizygous deletions on chromosome 22q11.2 result in developmental disorders referred to as DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS). We report the isolation of a novel gene, PCQAP (PC2 glutamine/Q-rich-associated protein), that maps to the DiGeorge typically deleted region and encodes a protein identi...


    pub_type: 杂志文章


    authors: Berti L,Mittler G,Przemeck GK,Stelzer G,Günzler B,Amati F,Conti E,Dallapiccola B,Hrabé de Angelis M,Novelli G,Meisterernst M

    更新日期:2001-06-15 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

  • A postimplantation lethal mutation induced by transgene insertion on mouse chromosome 8.

    abstract::We have produced three lines of transgenic mice that contain additional copies of the mouse phosphoglycerate kinase 1 (Pgk1) gene. Two of these lines, 94-A and 94-K, which are descendants of a common founder, did not produce liveborn progeny carrying two copies of these transgenes (i.e., A/A, K/K, or A/K). Genotyping ...


    pub_type: 杂志文章


    authors: Pravtcheva DD,Wise TL

    更新日期:1995-12-10 00:00:00

  • Polycystin-1L2 is a novel G-protein-binding protein.

    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...


    pub_type: 杂志文章


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

    更新日期:2004-07-01 00:00:00

  • Identification of the human KIF13A gene homologous to Drosophila kinesin-73 and candidate for schizophrenia.

    abstract::Several studies have reported significant linkage for schizophrenia on 6p23, with a maximum lod score between D6S274 and D6S285. In this paper, we present a new human kinesin gene localized in this 2-cM interval. This gene, termed KIF13A, belongs to the unc-104/KIF1A kinesin subfamily and represents the orthologue of ...


    pub_type: 杂志文章


    authors: Jamain S,Quach H,Fellous M,Bourgeron T

    更新日期:2001-05-15 00:00:00

  • A comparison of gene expression profiles produced by SAGE, long SAGE, and oligonucleotide chips.

    abstract::A comparison study of short SAGE versus GeneChip and long SAGE was conducted to determine if data were interchangeable between the techniques. Although SAGE and Affymetrix chip expression levels showed a significant correlation using the set of genes for which there was reliable and unambiguous mapping from tag-to-gen...


    pub_type: 杂志文章


    authors: Lu J,Lal A,Merriman B,Nelson S,Riggins G

    更新日期:2004-10-01 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

  • Chemogenomic profiling of the cellular effects associated with histone H3 acetylation impairment by a quinoline-derived compound.

    abstract::We report the results of a chemogenomic profiling aimed to explore the mode of action of a quinolic analogue of the p300 histone acetyltransferase (HAT) inhibitor anacardic acid, named MC1626. This compound reduced histone H3 acetylation in a dose-dependent manner and the HATs Gcn5 and Rtt109, which specifically targe...


    pub_type: 杂志文章


    authors: Ruotolo R,Tosi F,Vernarecci S,Ballario P,Mai A,Filetici P,Ottonello S

    更新日期:2010-11-01 00:00:00