Understanding the role of SOX9 in acquired diseases: Lessons from development

James Pritchett; Varinder Athwal; Neil Roberts; Neil A. Hanley; Karen Piper Hanley

doi:10.1016/j.molmed.2010.12.001

Understanding the role of SOX9 in acquired diseases: Lessons from development

James Pritchett
, Varinder Athwal
, Neil Roberts
, Neil A. Hanley
, Karen Piper Hanley^*

^*Corresponding author for this work

Medicine and Health

Research output: Contribution to journal › Review article › peer-review

103 Citations (Scopus)

Abstract

The transcription factor SOX9 is crucial for multiple aspects of development. Mutations in SOX9 cause campomelic dysplasia, a haploinsufficiency disorder concordant with the expression profile of SOX9 during embryogenesis. The mechanistic understanding of development has revealed roles for SOX9 in regulating cartilage extracellular matrix (ECM) production and cell proliferation, among others. More recently, it transpires that SOX9 becomes expressed and induces destructive ECM components in organ fibrosis and related disorders. Although commonly absent from the parent cell type, SOX9 is expressed in a wide range of cancers, where it regulates cell proliferation. These data have potential diagnostic, prognostic and therapeutic relevance, suggesting that disease mechanisms might result from re-expressing this developmental transcription factor in ectopic locations.

Original language	English
Pages (from-to)	166-174
Number of pages	9
Journal	Trends in Molecular Medicine
Volume	17
Issue number	3
DOIs	https://doi.org/10.1016/j.molmed.2010.12.001
Publication status	Published - Mar 2011

Bibliographical note

Funding Information:
The authors receive support from the Manchester NIHR Biomedical Research Centre. NH is a Wellcome Trust Senior Fellow in Clinical Science and receives funding from BBSRC, EPSRC and SC4SM. KPH receives funding from BBSRC. NR holds a studentship awarded to KPH by the Gerald Kerkut Trust. Robin Deller is acknowledged for his graphics.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

ASJC Scopus subject areas

Molecular Medicine
Molecular Biology

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10.1016/j.molmed.2010.12.001

Cite this

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title = "Understanding the role of SOX9 in acquired diseases: Lessons from development",

abstract = "The transcription factor SOX9 is crucial for multiple aspects of development. Mutations in SOX9 cause campomelic dysplasia, a haploinsufficiency disorder concordant with the expression profile of SOX9 during embryogenesis. The mechanistic understanding of development has revealed roles for SOX9 in regulating cartilage extracellular matrix (ECM) production and cell proliferation, among others. More recently, it transpires that SOX9 becomes expressed and induces destructive ECM components in organ fibrosis and related disorders. Although commonly absent from the parent cell type, SOX9 is expressed in a wide range of cancers, where it regulates cell proliferation. These data have potential diagnostic, prognostic and therapeutic relevance, suggesting that disease mechanisms might result from re-expressing this developmental transcription factor in ectopic locations.",

author = "James Pritchett and Varinder Athwal and Neil Roberts and Hanley, \{Neil A.\} and Hanley, \{Karen Piper\}",

note = "Funding Information: The authors receive support from the Manchester NIHR Biomedical Research Centre. NH is a Wellcome Trust Senior Fellow in Clinical Science and receives funding from BBSRC, EPSRC and SC4SM. KPH receives funding from BBSRC. NR holds a studentship awarded to KPH by the Gerald Kerkut Trust. Robin Deller is acknowledged for his graphics.",

year = "2011",

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doi = "10.1016/j.molmed.2010.12.001",

language = "English",

volume = "17",

pages = "166--174",

journal = "Trends in Molecular Medicine",

issn = "1471-4914",

publisher = "Elsevier",

number = "3",

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AU - Pritchett, James

AU - Athwal, Varinder

AU - Roberts, Neil

AU - Hanley, Neil A.

AU - Hanley, Karen Piper

N1 - Funding Information: The authors receive support from the Manchester NIHR Biomedical Research Centre. NH is a Wellcome Trust Senior Fellow in Clinical Science and receives funding from BBSRC, EPSRC and SC4SM. KPH receives funding from BBSRC. NR holds a studentship awarded to KPH by the Gerald Kerkut Trust. Robin Deller is acknowledged for his graphics.

PY - 2011/3

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N2 - The transcription factor SOX9 is crucial for multiple aspects of development. Mutations in SOX9 cause campomelic dysplasia, a haploinsufficiency disorder concordant with the expression profile of SOX9 during embryogenesis. The mechanistic understanding of development has revealed roles for SOX9 in regulating cartilage extracellular matrix (ECM) production and cell proliferation, among others. More recently, it transpires that SOX9 becomes expressed and induces destructive ECM components in organ fibrosis and related disorders. Although commonly absent from the parent cell type, SOX9 is expressed in a wide range of cancers, where it regulates cell proliferation. These data have potential diagnostic, prognostic and therapeutic relevance, suggesting that disease mechanisms might result from re-expressing this developmental transcription factor in ectopic locations.

AB - The transcription factor SOX9 is crucial for multiple aspects of development. Mutations in SOX9 cause campomelic dysplasia, a haploinsufficiency disorder concordant with the expression profile of SOX9 during embryogenesis. The mechanistic understanding of development has revealed roles for SOX9 in regulating cartilage extracellular matrix (ECM) production and cell proliferation, among others. More recently, it transpires that SOX9 becomes expressed and induces destructive ECM components in organ fibrosis and related disorders. Although commonly absent from the parent cell type, SOX9 is expressed in a wide range of cancers, where it regulates cell proliferation. These data have potential diagnostic, prognostic and therapeutic relevance, suggesting that disease mechanisms might result from re-expressing this developmental transcription factor in ectopic locations.

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JO - Trends in Molecular Medicine

JF - Trends in Molecular Medicine

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ER -

Understanding the role of SOX9 in acquired diseases: Lessons from development

Abstract

Bibliographical note

UN SDGs

ASJC Scopus subject areas

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