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Your search keyword '"Usha Peters"' showing total 3 results
Start Over Author "Usha Peters" Topic genetics
3 results on '"Usha Peters"'

1. AFX1 and p54 nrb : fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism

Author

Dagmar Nolte, Ulrich Müller, Usha Peters, Gerd Haberhausen, and Markus Kostrzewa

Subjects
Yeast artificial chromosome, X Chromosome, Genetic Linkage, Molecular Sequence Data, Restriction Mapping, Cell Cycle Proteins, Biology, Exon shuffling, Mice, Exon, Exon trapping, Nuclear Matrix-Associated Proteins, Start codon, Genetics, Animals, Humans, RNA, Messenger, Genetics (clinical), Base Sequence, Contig, Chromosome Mapping, Nuclear Proteins, RNA-Binding Proteins, Forkhead Transcription Factors, Parkinson Disease, Exons, Sequence Analysis, DNA, Syndrome, Stop codon, DNA-Binding Proteins, Dystonia, Genes, Organ Specificity, Octamer Transcription Factors, Tandem exon duplication, Transcription Factors
Abstract

We have mapped AFX1 and p54 nrb to a yeast artificial chromosome (YAC) contig of Xq13.1 that harbors the X-linked dystonia parkinsonism (XDP) locus DYT3. AFX1 is flanked by loci DXS7116 and Il2Rγ, and p54 nrb by loci DXS6673E and DXS7120. The exon-intron structure of both genes was analyzed. AFX1 is composed of three exons with most of exon 3 being untranslated. p54 nrb is made up of 12 exons ranging in size from 40 bp to 1227 bp. The start codon is in exon 3 and the stop codon in exon 12. Both genes are expressed in the brain, among other tissues. AFX1 and p54 nrb were excluded as candidates of DYT3 by sequencing of the exons and the flanking intronic sequences in an XDP patient and a control, and by Northern blot analysis.

Published
1997

2. New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas

Author

Usha Peters, Christiane Zweier, Axel Bohring, Bianca Miterski, Ulrike Hüffmeier, Beate Mitulla, Ursula G. Froster, Sibylle Strenge, Steffen Leinung, and Wolfram Heinritz

Subjects
Adult, Male, Multiple osteochondroma, Adolescent, RNA Splicing, Molecular Sequence Data, Biology, N-Acetylglucosaminyltransferases, White People, Denaturing high performance liquid chromatography, Young Adult, Transcription (biology), Germany, Genetics, Aberrant splice, Humans, Child, Gene, Genetics (clinical), Messenger RNA, Base Sequence, Molecular biology, Exon skipping, RNA splicing, Mutation, Female, Functional Neurogenomics [DCN 2], Exostoses, Multiple Hereditary
Abstract

Item does not contain fulltext Mutations in either the EXT1 or EXT2 genes lead to Multiple Osteochondromas (MO), an autosomal dominantly inherited disorder. This is a report on clinical findings and results of molecular analyses of both genes in 23 German patients affected by MO. Mutation screening was performed by using denaturing high performance liquid chromatography (dHPLC) and automated sequencing. In 17 of 23 patients novel pathogenic mutations have been identified; eleven in the EXT1 and six in the EXT2 gene. Five patients were carriers of recurrent mutations in the EXT2 gene (p.Asp227Asn, p.Gln172X, p.Gln258X) and one patient had no detectable mutation. To demonstrate their pathogenic effect on transcription, two complex mutations in EXT1 and EXT2 and three splice site mutations were characterized by mRNA investigations. The results obtained provide evidence for different aberrant splice effects - usage of new cryptic splice sites and exon skipping. Our study extends the mutational spectrum and understanding of pathogenic effects of mutations in EXT1 and EXT2.

Published
2009

3. Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3)

Author

Usha Peters, Elena G. Bochukova, Ulrich Müller, Andrea H. Németh, Eimear Dunne, Julie Brown, Elaine R. Levy, Roger D. Cox, Dagmar Nolte, Anthony P. Monaco, Markus Kostrzewa, Stephan Niemann, Hans-Hilger Ropers, Eileen Fraser, and Robin Butler

Subjects
Genetic Markers, Linkage disequilibrium, X Chromosome, Genetic Linkage, X-Linked Dystonia Parkinsonism, Biology, Linkage Disequilibrium, Contig Mapping, Gene mapping, Parkinsonian Disorders, Genetics, Humans, Gene, X chromosome, Expressed Sequence Tags, Contig, Haplotype, food and beverages, Chromosome Mapping, Syndrome, Cosmids, Physical Chromosome Mapping, Dystonia, Tandem Repeat Sequences, Cosmid
Abstract

X-linked dystonia-parkinsonism (XDP) is a recessive disorder characterized by generalized dystonia with some patients exhibiting parkinsonism. The disease gene, DYT3, is located between DXS453 (DXS993) and DXS559, and strongest linkage disequilibrium is found distal to DXS7117 and proximal to DXS559. We have isolated and analyzed four novel polymorphic markers between DXS7117 and DXS559 and, by haplotype analysis, have narrowed the candidate interval to

Published
1999

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