Literature DB >> 8353485

Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments.

A Bernards1, A J Snijders, G E Hannigan, A E Murthy, J F Gusella.   

Abstract

To identify evolutionary conserved domains and facilitate the recognition of potentially significant mutations in NF1 patients or tumors, we have determined the complete approximately 12 kb sequence of mouse neurofibromatosis type 1 mRNA. The sequence predicts a 2841 amino acid protein that is more than 98% identical to human neurofibromin. All but 9 of the 45 amino acid differences between mouse and human neurofibromin occur in the N-terminal half of the protein, with 16 changes clustered just upstream of the IRA-related segment. Given the high degree of sequence identity, virtually any sequence alteration in NF1 patients or tumors is potentially significant. We have also found that the 3' untranslated segment of NF1 mRNA is highly conserved, suggesting that this region may also be a target for mutations in NF1 patients.

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Year:  1993        PMID: 8353485     DOI: 10.1093/hmg/2.6.645

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  16 in total

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Review 2.  [Evaluation of cancer risk through genetic analysis?].

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Review 3.  Alternative splicing of the neurofibromatosis type I pre-mRNA.

Authors:  Victoria A Barron; Hua Lou
Journal:  Biosci Rep       Date:  2012-04-01       Impact factor: 3.840

4.  Neurofibromatosis type 1 alternative splicing is a key regulator of Ras signaling in neurons.

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Journal:  Mol Cell Biol       Date:  2014-04-07       Impact factor: 4.272

5.  A distinct set of Drosophila brain neurons required for neurofibromatosis type 1-dependent learning and memory.

Authors:  Monica E Buchanan; Ronald L Davis
Journal:  J Neurosci       Date:  2010-07-28       Impact factor: 6.167

Review 6.  Molecular genetics of neurofibromatosis type 1 (NF1).

Authors:  M H Shen; P S Harper; M Upadhyaya
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

7.  Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

Authors:  M Upadhyaya; J Maynard; M Osborn; S M Huson; M Ponder; B A Ponder; P S Harper
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

8.  The murine homolog of the human breast and ovarian cancer susceptibility gene Brca1 maps to mouse chromosome 11D.

Authors:  E Schröck; P Badger; D Larson; M Erdos; A Wynshaw-Boris; T Ried; L Brody
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

Review 9.  Neurofibromatosis type 1: new insights into neurocognitive issues.

Authors:  Maria T Acosta; Gerard A Gioia; Alcino J Silva
Journal:  Curr Neurol Neurosci Rep       Date:  2006-03       Impact factor: 5.081

10.  The neurofibromatosis type I pre-mRNA is a novel target of CELF protein-mediated splicing regulation.

Authors:  Victoria A Barron; Hui Zhu; Melissa N Hinman; Andrea N Ladd; Hua Lou
Journal:  Nucleic Acids Res       Date:  2009-10-23       Impact factor: 16.971

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