Calcified Tissue International

, Volume 75, Issue 5, pp 347–357

SQSTM1 and Paget’s Disease of Bone

Article

Abstract

Mutations in the Sequestosome 1 gene (SQSTM1; also known as p62) have recently been identified as the cause of 5q35-linked Paget’s disease of bone (PDB). All of the mutations identified to date affect the ubiquitin-associated (UBA) domain of SQSTM1, a region of the protein that binds noncovalently to ubiquitin. In this review we consider the possible functional significance of the SQSTM1-ubiquitin interaction, and consequences of the SQSTM1 UBA domain mutations. Clarification of the in vivo roles of SQSTM1 in bone-cell function will be central to improving our understanding of the molecular pathogenesis of PDB and related conditions.

Keywords

SQSTM1 p62 Paget’s disease of bone Ubiquitin UBA domain 

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  1. 1.School of Biomedical SciencesUniversity of Nottingham Medical School, Queen’s Medical CentreNottinghamUK
  2. 2.University of Aberdeen Medical SchoolInstitute of Medical SciencesForesterhillScotland, UK

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