1g5v

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Revision as of 14:54, 12 November 2007

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SOLUTION STRUCTURE OF THE TUDOR DOMAIN OF THE HUMAN SMN PROTEIN

Contents 1 Overview 2 Disease 3 About this Structure 4 Reference

Overview

Spinal muscular atrophy (SMA) is a common motor neuron disease that, results from mutations in the Survival of Motor Neuron (SMN) gene. The SMN, protein plays a crucial role in the assembly of spliceosomal uridine-rich, small nuclear ribonucleoprotein (U snRNP) complexes via binding to the, spliceosomal Sm core proteins. SMN contains a central Tudor domain that, facilitates the SMN-Sm protein interaction. A SMA-causing point mutation, (E134K) within the SMN Tudor domain prevents Sm binding. Here, we have, determined the three-dimensional structure of the Tudor domain of human, SMN. The structure exhibits a conserved negatively charged surface that is, shown to interact with the C-terminal Arg and Gly-rich tails of Sm, proteins. The E134K mutation does not disrupt the Tudor structure but, affects the charge distribution within this binding site. An intriguing, structural similarity between the Tudor domain and the Sm proteins, suggests the presence of an additional binding interface that resembles, that in hetero-oligomeric complexes of Sm proteins. Our data provide a, structural basis for a molecular defect underlying SMA.

Disease

Known diseases associated with this structure: Spinal muscular atrophy-1 OMIM:[600354], Spinal muscular atrophy-2 OMIM:[600354], Spinal muscular atrophy-3 OMIM:[600354], Spinal muscular atrophy-4 OMIM:[600354]

About this Structure

1G5V is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

SMN tudor domain structure and its interaction with the Sm proteins., Selenko P, Sprangers R, Stier G, Buhler D, Fischer U, Sattler M, Nat Struct Biol. 2001 Jan;8(1):27-31. PMID:11135666

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