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Alternative splicing of U2AF1 reveals a shared repression mechanism for duplicated exons

The auxiliary factor of U2 small nuclear ribonucleoprotein (U2AF) facilitates branch point (BP) recognition and formation of lariat introns. The gene for the 35-kD subunit of U2AF gives rise to two protein isoforms (termed U2AF35a and U2AF35b) that are encoded by alternatively spliced exons 3 and Ab, respectively. The splicing recognition sequences of exon 3 are less favorable...

Exon-centric regulation of ATM expression is population-dependent and amenable to antisense modification by pseudoexon targeting

• Google ScholarSearch for Nicholas C. P. Cross in:Nature Research journals • PubMed • Google ScholarSearch for Igor Vorechovsky in:Nature Research journals • PubMed • Google Scholar Contributions J.K. and ... Correspondence to Igor Vorechovsky. Supplementary information PDF files1.Supplementary Information Rights and permissions This work is licensed under a Creative Commons Attribution 4.0 International

Identification of U2AF(35)-dependent exons by RNA-Seq reveals a link between 3′ splice-site organization and activity of U2AF-related proteins

The auxiliary factor of U2 small nuclear RNA (U2AF) is a heterodimer consisting of 65- and 35-kD proteins that bind the polypyrimidine tract (PPT) and AG dinucleotides at the 3′ splice site (3′ss). The gene encoding U2AF35 (U2AF1) is alternatively spliced, giving rise to two isoforms U2AF35a and U2AF35b. Here, we knocked down U2AF35 and each isoform and characterized...

Optimal antisense target reducing INS intron 1 retention is adjacent to a parallel G quadruplex

Splice-switching oligonucleotides (SSOs) have been widely used to inhibit exon usage but antisense strategies that promote removal of entire introns to increase splicing-mediated gene expression have not been developed. Here we show reduction of INS intron 1 retention by SSOs that bind transcripts derived from a human haplotype expressing low levels of proinsulin. This haplotype...

Allele-specific recognition of the 3′ splice site of INS intron 1

Jana Kralovicova 0 Igor Vorechovsky 0 0 J. Kralovicova I. Vorechovsky (&) Division of Human Genetics, University of Southampton School of Medicine , MP808, Southampton SO16 6YD, UK Genetic

Letter to the Editor

0 Igor Vorechovsky Division of Human Genetics University of Southampton School of Medicine Southampton SO16 6YD United Kingdom To the Editor: In the November issue of Pediatric Research, Nozu et al

DBASS3 and DBASS5: databases of aberrant 3′- and 5′-splice sites

DBASS3 and DBASS5 provide comprehensive repositories of new exon boundaries that were induced by pathogenic mutations in human disease genes. Aberrant 5′- and 3′-splice sites were activated either by mutations in the consensus sequences of natural exon–intron junctions (cryptic sites) or elsewhere (‘de novo’ sites). DBASS3 and DBASS5 currently contain approximately 900 records of...

Compensatory signals associated with the activation of human GC 5′ splice sites

Jana Kralovicova Gyulin Hwang A. Charlotta Asplund Alexander Churbanov C. I. Edvard Smith Igor Vorechovsky GC 50 splice sites (50ss) are present in 1% of human introns, but factors promoting their

Cryptic splice sites and split genes

We describe a new program called cryptic splice finder (CSF) that can reliably identify cryptic splice sites (css), so providing a useful tool to help investigate splicing mutations in genetic disease. We report that many css are not entirely dormant and are often already active at low levels in normal genes prior to their enhancement in genetic disease. We also report a...

Re: Dominant Negative ATM Mutations in Breast Cancer Families

splicing of ATM and dominant negative mutations remain to be shown in A-T. HAIXIN LEI DARIA POSPISILOVA ANNIKA LINDBLOM IGOR VORECHOVSKY Lei et al. have determined the frequency of two ATM mutations in a

Allelic imbalance on chromosomes 13 and 17 and mutation analysis of BRCA1 and BRCA2 genes in monozygotic twins concordant for breast cancer

To study genetic changes associated with the development of breast cancer and the extent of its hereditary predisposition, paraffin-embedded tissue samples were obtained from monozygotic twin pairs concordant for breast cancer through the linked Swedish Twin and Cancer Registries. DNA samples extracted from the matched tumour and normal tissues of nine twin pairs were analysed...

Bleomycin-induced chromosomal damage in tuberous sclerosis

B L E O M Y C I N - I N D U C E D C H R O M O S O M A L D A M A G E I N T U B E R O U S SCLEROSIS Igor VORECHOVSKY 0 JURASKOVA 0 0 1Research Institute o f Paediatrics , Cernopolni 9, 662 62 Brno

Low frequency of E-cadherin alterations in familial breast cancer

In order to explore the possible role of E-cadherin in familial cancer, 19 familial breast cancer patients, whose tumours demonstrated loss of heterozygosity (LOH) at the E-cadherin locus, were screened for germline mutations. No pathogenic germline alterations were detected in these individuals. However, a somatic mutation was found (49-2A→C) in one of the tumours. This tumour...

UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients

Molecular analysis of p53 and patched (PTCH), two candidate tumor suppressor genes for non-melanocytic skin cancer, was performed in skin tumors from six patients affected by the cancer-prone disease xeroderma pigmentosum (XP). UV-specific p53 mutations were detected at a frequency of 38–50% in all the tumor types analysed, including melanomas. Additional analysis of PTCH...

Refinement of the LOH region 1 at 11q23.1 deleted in human breast carcinomas and sublocalization of 11 expressed sequence tags within the refined region

Loss of constitutive heterozygosity at 11q23 has been detected in various human solid tumors. Here, we described the analysis of a series of normal and tumor pairs from 110 breast carcinomas for the presence of loss of heterozygosity at 11q23 loci. The overall frequency of LOH was 48%, confirming the importance of deletions at 11q23 in breast tumorigenesis. Previously, we have...

BTKbase, Mutation Database for X-Linked Agammaglobulinemia (XLA)

Mauno Vihinen Tsutomu Iwata Christine Kinnon Sau-Ping Kwan Hans D. Ochs Igor Vorechovsky C. I. Edvard Smith X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

PSORS1, near HLA-C, is the major genetic determinant of psoriasis. We present genetic and structural evidence suggesting a major role for the HCR gene at the PSORS1 locus. Genotyping of 419 families from six populations revealed that coding single-nucleotide polymorphisms of HCR formed a conserved allele HCR*WWCC that associated highly significantly with psoriasis and with the...

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

Mauno Vihinen Bernd H. Belohradsky Robert N. Haire Elke Holinski-Feder Sau-Ping Kwan Ilkka Lappalainen Heikki Lehvslaiho Tracy Lester Alfons Meindl Hans D. Ochs Juha Ollila Igor Vorechovsky Michael