Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent

Gavin J A Lucas; Lynne J Hocking; Anna Daroszewska; Tim Cundy; Geoff C Nicholson; John P Walsh; William D Fraser; Christian Meier; Michael J Hooper; Stuart H Ralston

doi:10.1359/JBMR.041106

Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent

Gavin J A Lucas
, Lynne J Hocking
, Anna Daroszewska
, Tim Cundy
, Geoff C Nicholson
, John P Walsh
, William D Fraser
, Christian Meier
, Michael J Hooper
, Stuart H Ralston

Research output: Contribution to journal › Article › peer-review

43 Citations (Scopus)

Abstract

Mutations in the UBA domain of SQSTM1 are a common cause of Paget's disease of bone. Here we show that the most common disease-causing mutation (P392L) is carried on a shared haplotype, consistent with a founder effect and a common ancestral origin.

Original language	English
Pages (from-to)	227-231
Number of pages	5
Journal	Journal of Bone and Mineral Research
Volume	20
Issue number	2
DOIs	https://doi.org/10.1359/JBMR.041106
Publication status	Published - Feb 2005

Keywords

3' Untranslated Regions
Adaptor Proteins, Signal Transducing
Alleles
DNA Primers
Exons
Female
Founder Effect
Genotype
Great Britain
Haplotypes
Humans
Introns
Male
Models, Genetic
Mutation
Odds Ratio
Osteitis Deformans
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Protein Structure, Tertiary
Proteins
Software
Ubiquitin

Access to Document

10.1359/JBMR.041106

Cite this

Lucas, G. J. A., Hocking, L. J., Daroszewska, A., Cundy, T., Nicholson, G. C., Walsh, J. P., Fraser, W. D., Meier, C., Hooper, M. J., & Ralston, S. H. (2005). Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent. Journal of Bone and Mineral Research, 20(2), 227-231. https://doi.org/10.1359/JBMR.041106

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title = "Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent",

abstract = "Mutations in the UBA domain of SQSTM1 are a common cause of Paget's disease of bone. Here we show that the most common disease-causing mutation (P392L) is carried on a shared haplotype, consistent with a founder effect and a common ancestral origin.",

keywords = "3' Untranslated Regions, Adaptor Proteins, Signal Transducing, Alleles, DNA Primers, Exons, Female, Founder Effect, Genotype, Great Britain, Haplotypes, Humans, Introns, Male, Models, Genetic, Mutation, Odds Ratio, Osteitis Deformans, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Protein Structure, Tertiary, Proteins, Software, Ubiquitin",

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Lucas, GJA, Hocking, LJ, Daroszewska, A, Cundy, T, Nicholson, GC, Walsh, JP, Fraser, WD, Meier, C, Hooper, MJ & Ralston, SH 2005, 'Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent', Journal of Bone and Mineral Research, vol. 20, no. 2, pp. 227-231. https://doi.org/10.1359/JBMR.041106

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AU - Lucas, Gavin J A

AU - Hocking, Lynne J

AU - Daroszewska, Anna

AU - Cundy, Tim

AU - Nicholson, Geoff C

AU - Walsh, John P

AU - Fraser, William D

AU - Meier, Christian

AU - Hooper, Michael J

AU - Ralston, Stuart H

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KW - Exons

KW - Female

KW - Founder Effect

KW - Genotype

KW - Great Britain

KW - Haplotypes

KW - Humans

KW - Introns

KW - Male

KW - Models, Genetic

KW - Mutation

KW - Odds Ratio

KW - Osteitis Deformans

KW - Polymorphism, Genetic

KW - Polymorphism, Single Nucleotide

KW - Promoter Regions, Genetic

KW - Protein Structure, Tertiary

KW - Proteins

KW - Software

KW - Ubiquitin

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DO - 10.1359/JBMR.041106

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JO - Journal of Bone and Mineral Research

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