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SQSTM1 and Paget’s Disease of Bone

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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.

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Acknowledgments

We wish to acknowledge support of the Wellcome Trust (R.L.) and the Arthritis Research Campaign (L.J.H.). We thank J. Cavey and H. Majed for helpful comments on the manuscript, and M. Searle and B. Ciani for assistance in the preparation of Figure 5.

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  1. School of Biomedical Sciences, University of Nottingham Medical School, Queen’s Medical Centre, NG7 2UH, Nottingham, UK

    R. Layfield

  2. University of Aberdeen Medical School, Institute of Medical Sciences, AB25 2ZD, Foresterhill, Aberdeen, Scotland, UK

    L. J. Hocking

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Layfield, R., Hocking, L.J. SQSTM1 and Paget’s Disease of Bone. Calcif Tissue Int 75, 347–357 (2004). https://doi.org/10.1007/s00223-004-0041-0

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