Ubiquitous Chromatin Modifiers in Congenital Retinal Diseases: Implications for Disease Modeling and Regenerative Medicine

Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic proteins that modify chromatin. We review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epig...

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Veröffentlicht in:Trends in molecular medicine Jg. 27; H. 4; S. 365 - 378
Hauptverfasser: Basinski, Brian W., Balikov, Daniel A., Aksu, Michael, Li, Qiang, Rao, Rajesh C.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England Elsevier Ltd 01.04.2021
Schlagworte:
Animals
Anophthalmos - genetics
Anophthalmos - therapy
blindness
Blindness - etiology
Blindness - genetics
Blindness - therapy
Cell- and Tissue-Based Therapy - methods
Cell- and Tissue-Based Therapy - trends
Chromatin - pathology
Coloboma - genetics
Coloboma - therapy
Congenital Abnormalities - genetics
Congenital Abnormalities - therapy
development
Disease Models, Animal
epigenetics
Epigenomics
Humans
Microphthalmos - genetics
Microphthalmos - therapy
Pluripotent Stem Cells
Regenerative Medicine - methods
Regenerative Medicine - trends
retina
Retina - cytology
Retina - pathology
Retinal Diseases - genetics
Retinal Diseases - therapy
stem cells
Transcription Factors - genetics
Transcription Factors - metabolism
stem cells
development
retina
blindness
epigenetics
ISSN:1471-4914, 1471-499X, 1471-499X
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Abstract Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic proteins that modify chromatin. We review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epigenetics in MAC in humans and animal models. Further, we highlight how advances in epigenomic technologies provide foundational and regenerative medicine-related insights into blinding disorders. Combining knowledge of epigenetics and pluripotent stem cells (PSCs) is a promising avenue because epigenetic factors cooperate with eye field transcription factors (EFTFs) to direct PSC fate – a foundation for congenital retinal disease modeling and cell therapy. Surprisingly, many ubiquitous chromatin-modifying regulators control retinal development. They are linked to congenital blinding diseases such as microphthalmia.Disruption of retinal cell fate occurs via alterations in the catalytic activity of chromatin modifiers, inactivation of non-catalytic cofactors that comprise non-canonical epigenetic complexes, and temporal dysregulation of protein–transcription factor (TF) interactions that engage chromatin.Advances in PSC-derived retinal organoids and epigenomic technologies have enabled a deeper understanding of the causal role of chromatin accessibility and modifications, and of non-coding regions of the genome, in microphthalmia.Such advances provide translational insights into the roles of epigenetic memory and TF (e.g., TP53) mutations in source PSCs used for cell therapies in age-related blinding diseases.
AbstractList Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic proteins that modify chromatin. We review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epigenetics in MAC in humans and animal models. Further, we highlight how advances in epigenomic technologies provide foundational and regenerative medicine-related insights into blinding disorders. Combining knowledge of epigenetics and pluripotent stem cells (PSCs) is a promising avenue because epigenetic factors cooperate with eye field transcription factors (EFTFs) to direct PSC fate – a foundation for congenital retinal disease modeling and cell therapy. Surprisingly, many ubiquitous chromatin-modifying regulators control retinal development. They are linked to congenital blinding diseases such as microphthalmia.Disruption of retinal cell fate occurs via alterations in the catalytic activity of chromatin modifiers, inactivation of non-catalytic cofactors that comprise non-canonical epigenetic complexes, and temporal dysregulation of protein–transcription factor (TF) interactions that engage chromatin.Advances in PSC-derived retinal organoids and epigenomic technologies have enabled a deeper understanding of the causal role of chromatin accessibility and modifications, and of non-coding regions of the genome, in microphthalmia.Such advances provide translational insights into the roles of epigenetic memory and TF (e.g., TP53) mutations in source PSCs used for cell therapies in age-related blinding diseases.
Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic proteins that modify chromatin. We review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epigenetics in MAC in humans and animal models. Further, we highlight how advances in epigenomic technologies provide foundational and regenerative medicine-related insights into blinding disorders. Combining knowledge of epigenetics and pluripotent stem cells (PSCs) is a promising avenue because epigenetic factors cooperate with eye field transcription factors (EFTFs) to direct PSC fate - a foundation for congenital retinal disease modeling and cell therapy.Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic proteins that modify chromatin. We review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epigenetics in MAC in humans and animal models. Further, we highlight how advances in epigenomic technologies provide foundational and regenerative medicine-related insights into blinding disorders. Combining knowledge of epigenetics and pluripotent stem cells (PSCs) is a promising avenue because epigenetic factors cooperate with eye field transcription factors (EFTFs) to direct PSC fate - a foundation for congenital retinal disease modeling and cell therapy.
Retinal congenital malformations known as microphthalmia, anophthalmia and coloboma (MAC) are associated with alterations in genes that encode epigenetic proteins that modify chromatin. Here, we review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epigenetics in MAC in humans and animal models. Further, we highlight how advances in epigenomic technologies provide foundational and regenerative medicine-related insights into blinding disorders. Notably, combining knowledge of epigenetics and pluripotent stem cells (PSCs) is a promising avenue since epigenetic factors cooperate with eye field transcription factors to direct PSC fate -a foundation for congenital retinal disease modeling and cell therapy.
Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic proteins that modify chromatin. We review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epigenetics in MAC in humans and animal models. Further, we highlight how advances in epigenomic technologies provide foundational and regenerative medicine-related insights into blinding disorders. Combining knowledge of epigenetics and pluripotent stem cells (PSCs) is a promising avenue because epigenetic factors cooperate with eye field transcription factors (EFTFs) to direct PSC fate - a foundation for congenital retinal disease modeling and cell therapy.
Author Basinski, Brian W.
Li, Qiang
Balikov, Daniel A.
Rao, Rajesh C.
Aksu, Michael
AuthorAffiliation 6 Section of Ophthalmology, Surgery Service, Veterans Administration Ann Arbor Healthsystem, Ann Arbor, MI
3 Department of Computational Medicine and Bioinformatics
4 Comprehensive Cancer Center
1 Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center
2 Department of Pathology
5 A. Alfred Taubman Medical Research Institute University of Michigan, Ann Arbor, MI
AuthorAffiliation_xml – name: 2 Department of Pathology
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– name: 5 A. Alfred Taubman Medical Research Institute University of Michigan, Ann Arbor, MI
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Author_xml – sequence: 1
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  email: rajeshr@umich.edu
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CitedBy_id crossref_primary_10_1134_S1062360421040032
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crossref_primary_10_5409_wjcp_v14_i2_101982
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Keywords stem cells
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blindness
epigenetics
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Snippet Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic...
Retinal congenital malformations known as microphthalmia, anophthalmia and coloboma (MAC) are associated with alterations in genes that encode epigenetic...
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SubjectTerms Animals
Anophthalmos - genetics
Anophthalmos - therapy
blindness
Blindness - etiology
Blindness - genetics
Blindness - therapy
Cell- and Tissue-Based Therapy - methods
Cell- and Tissue-Based Therapy - trends
Chromatin - pathology
Coloboma - genetics
Coloboma - therapy
Congenital Abnormalities - genetics
Congenital Abnormalities - therapy
development
Disease Models, Animal
epigenetics
Epigenomics
Humans
Microphthalmos - genetics
Microphthalmos - therapy
Pluripotent Stem Cells
Regenerative Medicine - methods
Regenerative Medicine - trends
retina
Retina - cytology
Retina - pathology
Retinal Diseases - genetics
Retinal Diseases - therapy
stem cells
Transcription Factors - genetics
Transcription Factors - metabolism
Title Ubiquitous Chromatin Modifiers in Congenital Retinal Diseases: Implications for Disease Modeling and Regenerative Medicine
URI https://www.clinicalkey.com/#!/content/1-s2.0-S1471491421000034
https://dx.doi.org/10.1016/j.molmed.2021.01.001
https://www.ncbi.nlm.nih.gov/pubmed/33573910
https://www.proquest.com/docview/2489254729
https://pubmed.ncbi.nlm.nih.gov/PMC8034778
Volume 27
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