A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)
Eranga N. Vithana,Leen Abu-Safieh,Maxine J. Allen,Alisoun H. Carey,Myrto Papaioannou,Christina Chakarova,M Al-Maghtheh,Neil D. Ebenezer,Catherine Willis,Anthony T. Moore,Anthony T. Moore,Alan C. Bird,Alan C. Bird,David M. Hunt,Shomi S. Bhattacharya +14 more
TLDR
This paper reported mutations in a gene (PRPF31) homologous to Saccharomyces cerevisiae pre-mRNA splicing gene PRP31 in families with autosomal dominant retinitis pigmentosa linked to chromosome 19q13.4 (RP11; MIM 600138).About:
This article is published in Molecular Cell.The article was published on 2001-08-01 and is currently open access. It has received 330 citations till now. The article focuses on the topics: PRPF31 & Exonic splicing enhancer.read more
Citations
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A census of human RNA-binding proteins.
TL;DR: This work presents a census of 1,542 manually curated RBPs that are analysed for their interactions with different classes of RNA, their evolutionary conservation, their abundance and their tissue-specific expression, a critical step towards the comprehensive characterization of proteins involved in human RNA metabolism.
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Pre-mRNA splicing and human disease
TL;DR: The purpose of this review is to highlight the different mechanisms by which disruption of pre-mRNA splicing play a role in human disease.
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Splicing in disease: disruption of the splicing code and the decoding machinery
Guey-Shin Wang,Thomas A. Cooper +1 more
TL;DR: Human genes contain a dense array of diverse cis-acting elements that make up a code required for the expression of correctly spliced mRNAs, which contributes to disease severity and susceptibility by affecting splicing efficiency.
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Comprehensive proteomic analysis of the human spliceosome.
TL;DR: The spliceosome is identified as the most complex cellular machine so far characterized, containing at least 30 proteins with known or putative roles in gene expression steps other than splicing, and its components comprise all previously known splicing factors and 58 newly identified components.
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Alternative splicing in disease and therapy
TL;DR: Alternative splicing is the major source of proteome diversity in humans and thus is highly relevant to disease and therapy, and modified oligonucleotides to inhibit cryptic exons or to activate exons weakened by mutations could eventually lead to effective therapies.
References
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The Pfam protein families database
Marco Punta,Penny Coggill,Ruth Y. Eberhardt,Jaina Mistry,John Tate,Chris Boursnell,Ningze Pang,Kristoffer Forslund,Goran Ceric,Jody Clements,Andreas Heger,Liisa Holm,Erik L. L. Sonnhammer,Sean R. Eddy,Alex Bateman,Robert D. Finn +15 more
TL;DR: The definition and use of family-specific, manually curated gathering thresholds are explained and some of the features of domains of unknown function (also known as DUFs) are discussed, which constitute a rapidly growing class of families within Pfam.
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Organization and Expression of Eucaryotic Split Genes Coding for Proteins
R Breathnach,P Chambon +1 more
TL;DR: This paper organizes the organization of protein codes into split genes, a small number of which are expressed in the chickenuct, and discusses generalization, generalization and Molecular Evolution.
Expression of eucaryotic split genes coding for proteins
TL;DR: In this paper, the split genes were described as follows: Globin genes expressed in the chicken o,iduct, Vitellogenin genes, Collagen genes and Actin genes.
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The Structure and Function of Proteins Involved in Mammalian Pre-mRNA Splicing
TL;DR: The structure and function of mammalian proteins are summarized which are essential components of the constitutive splicing machinery and which exert auxiliary functions in the recognition, selection, and juxtaposition of the splice sites and drive conformational changes during spliceosome assembly and catalysis.