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. 2001 Dec;69(6):1407-9.
doi: 10.1086/324593.

A second leaky splice-site mutation in the spastin gene

I K Svenson, A E Ashley-Koch, M A Pericak-Vance, D A Marchuk

A second leaky splice-site mutation in the spastin gene

I K Svenson et al. Am J Hum Genet. 2001 Dec.
No abstract available

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Figures

Figure 1
Figure 1
A, The pSPL3 exon-trapping vector was used to assay splice-site selection. COS1 cells were transfected with vector alone (pSPL3), with wild-type exons 10–12 and flanking intronic sequence (wild type), or with the same construct but containing the IVS11+2t insertion (mutant). Top panel, Schematic showing construct design, vector-specific primers used for amplification (horizontal arrows), site of mutation (vertical arrow), and splice variants a, b, and c. Bottom panel, Transcripts identified on the basis of sequencing of the correspondingly labeled RT-PCR products (a, b, and c). B, RT-PCR analysis of RNA extracted from a lymphoblastoid cell line from a normal control individual (control), from a patient heterozygous for the IVS11+2t insertion (2187), or from a mouse E2-human hybrid cell line hemizygous for human chromosome 2, without (wild type) or with (mutant) the IVS11+2t insertion. Top panel, Schematic showing positions of primers used for amplification (horizontal arrows), site of mutation (vertical arrow), and splice variants a and b. Bottom panel, Transcripts identified on the basis of sequencing of the correspondingly labeled RT-PCR products (a and b).
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References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for SPG4 [MIM 182601]) - PubMed

References

    1. Berget SM (1995) Exon recognition in vertebrate splicing. J Biol Chem 270:2411–2414 - PubMed
    1. Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine C-S, Cruaud D, Dürr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder J-M, Prud’homme J-F, Brice A, Fontaine B, Heilig R, Weissenbach J (1999) Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 23:296–303 - PubMed
    1. Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJK, Kingston HM, Hogan EL, Boustany R-MN, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA (2001) Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J Hum Genet 68:1077–1085 - PMC - PubMed

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