The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment

Kaufmann, Dieter; Müller, Ralf; Kenner, Oliver; Leistner, Werner; Hein, Christian; Vogel, Walther; Bartelt, Britta

doi:10.1016/s0006-291x(02)00501-6

Cited by 25 publications

(22 citation statements)

References 20 publications

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“…This implies that new splicing variants might be generated during carcinogenesis. This result supports the observation that during carcinogenesis not only is the expression profile affected but the splicing pattern is also dramatically altered (Kaufmann et al, 2002 Table 5 for primers Figure 1 Alternative splicing of Locus 210 in BASD. Alternative splicing variants are displayed in bar-link graph form.…”

Section: Identification Of Cancer-associated Splicing Variantssupporting

confidence: 86%

“…Alterative splicing in DNA polymerase beta appears much more often in bladder cancer tissues and cell lines than in normal bladder tissue, although it does occur in normal bladder tissue (Thompson et al, 2002). Kaufmann et al (2002) studied the alternative transcripts of neurofibromatosis type 1 (NF1) in three tumor tissues and found that the types of spliced variants were about twice more than in normal tissues . In addition, physiological condition, temperature and PH value, which are often altered in tumor cells, would increase aberrant variants of NF1 in vitro (Ars et al, 2000;Kaufmann et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

“…Kaufmann et al (2002) studied the alternative transcripts of neurofibromatosis type 1 (NF1) in three tumor tissues and found that the types of spliced variants were about twice more than in normal tissues . In addition, physiological condition, temperature and PH value, which are often altered in tumor cells, would increase aberrant variants of NF1 in vitro (Ars et al, 2000;Kaufmann et al, 2002). Enhancement of alternative splicing in cancer cells may have a similar significant impact on carcinogenesis as expression level change.…”

Section: Discussionmentioning

confidence: 99%

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Identification of alternatively spliced mRNA variants related to cancers by genome-wide ESTs alignment

Hui

Zhang

et al. 2004

Oncogene

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Several databases have been published to predict alternative splicing of mRNAs by analysing the exon linkage relationship by alignment of expressed sequence tags (ESTs) to the genome sequence; however, little effort has been made to investigate the relationship between cancers and alternative splicing. We developed a program, Alternative Splicing Assembler (ASA), to look for splicing variants of human gene transcripts by genome-wide ESTs alignment. Using ASA, we constructed the biosino alternative splicing database (BASD), which predicted splicing variants for reference sequences from the reference sequence database (RefSeq) and presented them in both graph and text formats. EST clusters that differ from the reference sequences in at least one splicing site were counted as splicing variants. Of 4322 genes screened, 3490 (81%) were observed with at least one alternative splicing variants. To discover the variants associated with cancers, tissue sources of EST sequences were extracted from the UniLib database and ESTs from the same tissue type were counted. These were regarded as the indicators for gene expression level. Using Fisher's exact test, alternative splicing variants, of which EST counts were significantly different between cancer tissues and their counterpart normal tissues, were identified. It was predicted that 2149 variants, or 383 variants after Bonferroni correction, of 26 812 variants were likely tumor-associated. By reverse transcription-PCR, 11 of 13 novel alternative splicing variants and eight of nine variants' tissue specificity were confirmed in hepatocelluar carcinoma and in lung cancer. The possible involvement of alternative splicing in cancer is discussed.

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Section: Identification Of Cancer-associated Splicing Variantssupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Identification of alternatively spliced mRNA variants related to cancers by genome-wide ESTs alignment

Hui

Zhang

et al. 2004

Oncogene

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“…An additional alternatively included exon, 23b, is expressed in mouse. 10 The four NF1 exons 4b, 29, 30 and 43 are alternatively skipped in human. 11 The pattern of expression of the alternative exons is characterized.…”

Section: Introductionmentioning

confidence: 99%

In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons

et al. 2003

Self Cite

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“…The disease is due to mutations of the NF1 gene located at 17q11.2. This gene is one of the largest human genes, spanning $280 kb of genomic DNA, containing 57 exons , with four well established alternative splice forms [Kaufmann et al, 2002], and which encodes a 9-12 kb mRNA transcript [Upadhyaya and Cooper, 1998]. Neurofibromin, the NF1 gene product, is a GTPase activating protein (GAP) that is directly involved in cellular Ras inactivation, by catalyzing conversion of active Ras-GTP into inactive Ras-GDP.…”

Section: Introductionmentioning

confidence: 99%

Congenital disseminated neurofibromatosis type 1: A clinical and molecular case report

Stewart

Bowker

Edees

et al. 2008

American J of Med Genetics Pt A

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Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a birth incidence of 1/3,500. Around 50% of cases are due to new mutations. The NF1 gene maps to 17q11.2 and encodes neurofibromin. NF1 is a "classical" tumor suppressor gene. Congenital disseminated NF1 is rare with just two cases previously reported. We present a deceased baby with congenital disseminated NF1 in whom we performed molecular studies. A germline mutation (R461X) in exon 10a of the NF1 gene was found. A 2 bp deletion (3508delCA) in codon 1170 of exon 21 was identified in DNA derived from some tumor tissue. Loss of heterozygosity in NF1 and TP53 was observed in other tumor samples. No microsatellite instability was observed in the tumor samples. This is the first report of molecular analysis of the NF1 locus in a patient with disseminated congenital neurofibromatosis. This case had a de novo germline mutation in NF1 and three documented somatic mutations in the NF1 and TP53 genes in tumor specimens.

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The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment

Cited by 25 publications

References 20 publications

Identification of alternatively spliced mRNA variants related to cancers by genome-wide ESTs alignment

Identification of alternatively spliced mRNA variants related to cancers by genome-wide ESTs alignment

In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons

Congenital disseminated neurofibromatosis type 1: A clinical and molecular case report

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