Pathogenic KDM5B variants in the context of developmental disorders
Pathogenic KDM5B variants in the context of developmental disorders
Histone modifying enzymes are involved in the posttranslational modification of histones and the epigenetic control of gene expression. They play a critical role in normal development, and there is increasing evidence of their role in developmental disorders (DDs). DDs are a group of chronic, severe conditions that impact the physical, intellectual, language and/or behavioral development of an individual. There are very few treatment options available for DDs such that these are conditions with significant unmet clinical need. Recessive variants in the gene encoding histone modifying enzyme KDM5B are associated with a DD characterized by developmental delay, facial dysmorphism and camptodactyly. KDM5B is responsible for the demethylation of lysine 4 on the amino tail of histone 3 and plays a vital role in normal development and regulating cell differentiation. This review explores the literature on KDM5B and what is currently known about its roles in development and developmental disorders.
Developmental disorders, Epigenetics, Histone modifying enzymes, KDM5B
Harrington, Jack
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Wheway, Gabrielle
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Willaime-Morawek, Sandrine
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Gibson, Jane
855033a6-38f3-4853-8f60-d7d4561226ae
Walters, Zoë S
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July 2022
Harrington, Jack
9b3b7cdd-3f35-4bcb-aab9-44d04e6c4858
Wheway, Gabrielle
2e547e5d-b921-4243-a071-2208fd4cc090
Willaime-Morawek, Sandrine
24a2981f-aa9e-4bf6-ad12-2ccf6b49f1c0
Gibson, Jane
855033a6-38f3-4853-8f60-d7d4561226ae
Walters, Zoë S
e1ccd35d-63a9-4951-a5da-59122193740d
Harrington, Jack, Wheway, Gabrielle, Willaime-Morawek, Sandrine, Gibson, Jane and Walters, Zoë S
(2022)
Pathogenic KDM5B variants in the context of developmental disorders.
Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 1865 (5), [194848].
(doi:10.1016/j.bbagrm.2022.194848).
Abstract
Histone modifying enzymes are involved in the posttranslational modification of histones and the epigenetic control of gene expression. They play a critical role in normal development, and there is increasing evidence of their role in developmental disorders (DDs). DDs are a group of chronic, severe conditions that impact the physical, intellectual, language and/or behavioral development of an individual. There are very few treatment options available for DDs such that these are conditions with significant unmet clinical need. Recessive variants in the gene encoding histone modifying enzyme KDM5B are associated with a DD characterized by developmental delay, facial dysmorphism and camptodactyly. KDM5B is responsible for the demethylation of lysine 4 on the amino tail of histone 3 and plays a vital role in normal development and regulating cell differentiation. This review explores the literature on KDM5B and what is currently known about its roles in development and developmental disorders.
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e-pub ahead of print date: 26 July 2022
Published date: July 2022
Additional Information:
Funding Information:
JH is supported by Wessex Medical Research and Rosetrees Trust studentship ( PHD-2021/AB01 ).
Publisher Copyright:
© 2022
Keywords:
Developmental disorders, Epigenetics, Histone modifying enzymes, KDM5B
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Local EPrints ID: 469059
URI: http://eprints.soton.ac.uk/id/eprint/469059
ISSN: 1874-9399
PURE UUID: d7b5e1b6-8192-4f7f-a0bc-78a5071c80e2
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Date deposited: 05 Sep 2022 17:04
Last modified: 17 Mar 2024 03:53
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Author:
Jack Harrington
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