Get Alternative Splicing and Disease (Progress in Molecular and PDF

By Philippe Jeanteur

ISBN-10: 3540344489

ISBN-13: 9783540344483

Splicing of fundamental RNA transcript is a quasi-systematic step of gene expression in better organisms. this is often the 1st ebook to focus on the scientific implications, i.e. ailments, brought on by replacement splicing. substitute splicing not just tremendously raises protein range but in addition bargains various possibilities for aberrant splicing occasions with pathological results. The ebook additionally outlines attainable ambitions for treatment.

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Extra resources for Alternative Splicing and Disease (Progress in Molecular and Subcellular Biology)

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Curr Biol 9: 899–902 Kampa D, Cheng J, Kapranov P, Yamanaka M, Brubaker S, Cawley S, Drenkow J, Piccolboni A, Bekiranov S, Helt G, Tammana H, Gingeras TR (2004) Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22. Genome Res 14: 331–342 Kashima T, Manley JL (2003) A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 34: 460–463 Kralovicova J, Houngninou-Molango S, Kramer A, Vorechovsky I (2004) Branch site haplotypes that control alternative splicing.

Large letters indicate exonic mutations, small letters indicate intronic mutations. The top line of each sequence indicates wild type, the lower line the mutant—(Cont’d) Pre-mRNA Missplicing as a Cause of Human Disease 35 snRNP assembly. Humans posses an almost identical gene, SMN2 that was generated through a recent duplication. Although both genes are almost identical in sequence, due to a translationally silent C>T change at position 6 in exon 7, they have different splicing patterns and exon 7 is predominantly excluded in SMN2.

Nat Biotechnol 20: 353–358 Yeo GW, Van Nostrand E, Holste D, Poggio T, Burge CD (2005) Identification and analysis of alternative splicing events conserved in human and mouse. Proc Natl Acad Sci 102: 2850–5. Zhang W, Morris QD, Chang R, Shai O, Bakowski MA, Mitsakakis N, Mohammad N, Robinson MD, Zirngibl R, Somogyi E, Laurin N, Eftekharpour E, Sat E, Grigull J, Pan Q, Peng WT, Krogan N, Greenblatt J, Fehlings M, van der Kooy D, Aubin J, Bruneau BG, Rossant J, Blencowe BJ, Frey BJ, Hughes TR. (2004) The functional landscape of mouse gene expression.

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Alternative Splicing and Disease (Progress in Molecular and Subcellular Biology) by Philippe Jeanteur


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