By Philippe Jeanteur

Splicing of basic RNA transcript is a quasi-systematic step of gene expression in larger organisms. this is often the 1st publication to spotlight the scientific implications, i.e. ailments, because of substitute splicing. substitute splicing not just greatly raises protein variety but in addition deals quite a few possibilities for aberrant splicing occasions with pathological results. The booklet additionally outlines attainable goals for remedy.

Show description

Read or Download Alternative Splicing and Disease (Progress in Molecular and Subcellular Biology) PDF

Best molecular biology books

The Thread of Life: The Story of Genes and Genetic Engineering

During this attention-grabbing e-book, Susan Aldridge provides an available consultant to the area of DNA and in addition explores the functions of genetic engineering in biotechnology. She takes the reader, step-by-step, throughout the attention-grabbing research of molecular biology, interpreting DNA and its functionality inside dwelling organisms in addition to facets of genetic engineering and its functions to people.

Principles of Clinical Pharmacology, Second Edition

This revised moment version covers the pharmacologic ideas underlying the individualization of sufferer remedy and modern drug improvement, concentrating on the basics that underlie the scientific use and modern improvement of prescribed drugs. Authors drawn from academia, the pharmaceutical and executive organizations hide the spectrum of fabric, together with pharmacokinetic perform questions, coated through the fundamental technology portion of the certifying exam provided by way of the yank Board of scientific Pharmacology.

THE EIGHTH DAY OF CREATION Makers of the Revolution in Biology

In 1993, one of many best-ever technology books went out of print within the usa. First released in 1979, The 8th Day of production had completed an extraordinary mixture of luck, combining critics' acclaim and scientists' approval with robust advertisement revenues. As dictated by means of the conventions of the period, the hardcover variation used to be by way of a paperback and at last, years later as revenues declined, through the publisher's choice to forestall making copies and revert the rights to the writer, Horace Freeland Judson.

Proteogenomics

This publication highlights key applied sciences and identifies parts for additional improvement in proteogenomics. The software and usability of very huge Omics information units (Next Gen Sequencing of DNA, RNA-seq, ribosome profiling, mass spectrometry- and antibody-based proteomics) is mentioned and possibilities and demanding situations of similar bioinformatics purposes are defined.

Additional info for Alternative Splicing and Disease (Progress in Molecular and Subcellular Biology)

Sample text

2001) GTGATTCGCGTGGGT GTGATTCGGGTGGGT Porphobilinogen deaminase Fumarylacetoacetate hydrolase Pyruvate dehydrogenase E1 alpha TNFRSF5, tumorCTACAGGG necrosis factor CTACTGGG receptor superfamily, member 5 (CD40); CCTATGGGCCGTT CYP27A1 CCTATGTGCCGTT GGGATCATCGTGGGA Fibrillin-1 GGGATCATTGTGGGA MNK Menkes disease Bardet-Biedl Syndrome MGC1203 Zavadakova et al. (2002); Zavadakova et al. (2005) Badano et al. (2006) Methionine synthase TCAGCCTGAGAGGA TCAGCCCGAGAGGA GGCCTTCG GGCCTTTG Matern et al. (2003) Short/branched-chain GAGTGGATGGGGG GAGTGGGTGGGGG acyl-CoA dehydrogenase Reference 2-methylbutyryl-coa dehydrogenase deficiency/ short/branched-chain acyl-coa dehydrogenase (SBCAD) Homocystinuria Mutation Gene Disease Table 1.

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. This exon-skipping event generates a truncated, less stable and probably nonfunctional protein.

2001) Hasegawa et al. (1994) Gu et al. (2001) GTGATTCGCGTGGGT GTGATTCGGGTGGGT Porphobilinogen deaminase Fumarylacetoacetate hydrolase Pyruvate dehydrogenase E1 alpha TNFRSF5, tumorCTACAGGG necrosis factor CTACTGGG receptor superfamily, member 5 (CD40); CCTATGGGCCGTT CYP27A1 CCTATGTGCCGTT GGGATCATCGTGGGA Fibrillin-1 GGGATCATTGTGGGA MNK Menkes disease Bardet-Biedl Syndrome MGC1203 Zavadakova et al. (2002); Zavadakova et al. (2005) Badano et al. (2006) Methionine synthase TCAGCCTGAGAGGA TCAGCCCGAGAGGA GGCCTTCG GGCCTTTG Matern et al.

Download PDF sample

Rated 4.45 of 5 – based on 13 votes