Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins

In the past few years, there has been an increasing neuroscientific interest in understanding the function of mammalian chromodomains helicase DNA-binding (CHD) proteins due to their association with severe developmental syndromes. Mammalian CHDs include nine members (CHD1 to CHD9), grouped into sub...

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Autores principales:	Ana R. Cardoso, Mónica Lopes-Marques, Manuela Oliveira, António Amorim, Maria J. Prata, Luísa Azevedo
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	chromodomains helicase DNA-binding protein neurodevelopment chromatin remodelling transcription regulation evolutionary conservation Genetics QH426-470
Acceso en línea:	https://doaj.org/article/c253b9fb496344a28811930fc1a8c30d
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spelling	oai:doaj.org-article:c253b9fb496344a28811930fc1a8c30d2021-11-25T17:42:27ZGenetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins10.3390/genes121118272073-4425https://doaj.org/article/c253b9fb496344a28811930fc1a8c30d2021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1827https://doaj.org/toc/2073-4425In the past few years, there has been an increasing neuroscientific interest in understanding the function of mammalian chromodomains helicase DNA-binding (CHD) proteins due to their association with severe developmental syndromes. Mammalian CHDs include nine members (CHD1 to CHD9), grouped into subfamilies according to the presence of specific functional domains, generally highly conserved in evolutionary terms. Mutations affecting these domains hold great potential to disrupt protein function, leading to meaningful pathogenic scenarios, such as embryonic defects incompatible with life. Here, we analysed the evolution of CHD proteins by performing a comparative study of the functional domains of CHD proteins between orthologous and paralogous protein sequences. Our findings show that the highest degree of inter-species conservation was observed at Group II (CHD3, CHD4, and CHD5) and that most of the pathological variations documented in humans involve amino acid residues that are conserved not only between species but also between paralogs. The parallel analysis of both orthologous and paralogous proteins, in cases where gene duplications have occurred, provided extra information showing patterns of flexibility as well as interchangeability between amino acid positions. This added complexity needs to be considered when the impact of novel mutations is assessed in terms of evolutionary conservation.Ana R. CardosoMónica Lopes-MarquesManuela OliveiraAntónio AmorimMaria J. PrataLuísa AzevedoMDPI AGarticlechromodomains helicase DNA-binding proteinneurodevelopmentchromatin remodellingtranscription regulationevolutionary conservationGeneticsQH426-470ENGenes, Vol 12, Iss 1827, p 1827 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	chromodomains helicase DNA-binding protein neurodevelopment chromatin remodelling transcription regulation evolutionary conservation Genetics QH426-470
spellingShingle	chromodomains helicase DNA-binding protein neurodevelopment chromatin remodelling transcription regulation evolutionary conservation Genetics QH426-470 Ana R. Cardoso Mónica Lopes-Marques Manuela Oliveira António Amorim Maria J. Prata Luísa Azevedo Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins
description	In the past few years, there has been an increasing neuroscientific interest in understanding the function of mammalian chromodomains helicase DNA-binding (CHD) proteins due to their association with severe developmental syndromes. Mammalian CHDs include nine members (CHD1 to CHD9), grouped into subfamilies according to the presence of specific functional domains, generally highly conserved in evolutionary terms. Mutations affecting these domains hold great potential to disrupt protein function, leading to meaningful pathogenic scenarios, such as embryonic defects incompatible with life. Here, we analysed the evolution of CHD proteins by performing a comparative study of the functional domains of CHD proteins between orthologous and paralogous protein sequences. Our findings show that the highest degree of inter-species conservation was observed at Group II (CHD3, CHD4, and CHD5) and that most of the pathological variations documented in humans involve amino acid residues that are conserved not only between species but also between paralogs. The parallel analysis of both orthologous and paralogous proteins, in cases where gene duplications have occurred, provided extra information showing patterns of flexibility as well as interchangeability between amino acid positions. This added complexity needs to be considered when the impact of novel mutations is assessed in terms of evolutionary conservation.
format	article
author	Ana R. Cardoso Mónica Lopes-Marques Manuela Oliveira António Amorim Maria J. Prata Luísa Azevedo
author_facet	Ana R. Cardoso Mónica Lopes-Marques Manuela Oliveira António Amorim Maria J. Prata Luísa Azevedo
author_sort	Ana R. Cardoso
title	Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins
title_short	Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins
title_full	Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins
title_fullStr	Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins
title_full_unstemmed	Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins
title_sort	genetic variability of the functional domains of chromodomains helicase dna-binding (chd) proteins
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/c253b9fb496344a28811930fc1a8c30d
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Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins

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