Autophagy genes in biology and disease

Macroautophagy and microautophagy are highly conserved eukaryotic cellular processes that degrade cytoplasmic material in lysosomes. Both pathways involve characteristic membrane dynamics regulated by autophagy-related proteins and other molecules, some of which are shared between the two pathways....

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Published in:	Nature reviews. Genetics Vol. 24; no. 6; pp. 382 - 400
Main Authors:	Yamamoto, Hayashi, Zhang, Sidi, Mizushima, Noboru
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group UK 01.06.2023 Nature Publishing Group
Subjects:	631/181/2474 631/208/2489/144 631/337 631/80 Agriculture Animal Genetics and Genomics Autophagy Autophagy - genetics Biology Biomedical and Life Sciences Biomedicine Cancer Research Coevolution Cryoelectron Microscopy Electron microscopy Eukaryota Evolutionary genetics Gene Function Genomes Human Genetics Humans Lysosomes Lysosomes - metabolism Neurodegenerative diseases Prokaryotes Proteins - metabolism Review Review Article
ISSN:	1471-0056, 1471-0064, 1471-0064
Online Access:	Get full text
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Abstract	Macroautophagy and microautophagy are highly conserved eukaryotic cellular processes that degrade cytoplasmic material in lysosomes. Both pathways involve characteristic membrane dynamics regulated by autophagy-related proteins and other molecules, some of which are shared between the two pathways. Over the past few years, the application of new technologies, such as cryo-electron microscopy, coevolution-based structural prediction and in vitro reconstitution, has revealed the functions of individual autophagy gene products, especially in autophagy induction, membrane reorganization and cargo recognition. Concomitantly, mutations in autophagy genes have been linked to human disorders, particularly neurodegenerative diseases, emphasizing the potential pathogenic implications of autophagy defects. Accumulating genome data have also illuminated the evolution of autophagy genes within eukaryotes as well as their transition from possible ancestral elements in prokaryotes. Macroautophagy and microautophagy involve characteristic membrane dynamics regulated by autophagy-related proteins to degrade cytoplasmic material in lysosomes. In this Review, the authors summarize recent progress in elucidating these highly conserved processes, the pathological relevance of autophagy-related genes in Mendelian and complex diseases, and the evolution of the autophagy pathway.
AbstractList	Macroautophagy and microautophagy are highly conserved eukaryotic cellular processes that degrade cytoplasmic material in lysosomes. Both pathways involve characteristic membrane dynamics regulated by autophagy-related proteins and other molecules, some of which are shared between the two pathways. Over the past few years, the application of new technologies, such as cryo-electron microscopy, coevolution-based structural prediction and in vitro reconstitution, has revealed the functions of individual autophagy gene products, especially in autophagy induction, membrane reorganization and cargo recognition. Concomitantly, mutations in autophagy genes have been linked to human disorders, particularly neurodegenerative diseases, emphasizing the potential pathogenic implications of autophagy defects. Accumulating genome data have also illuminated the evolution of autophagy genes within eukaryotes as well as their transition from possible ancestral elements in prokaryotes. Macroautophagy and microautophagy are highly conserved eukaryotic cellular processes that degrade cytoplasmic material in lysosomes. Both pathways involve characteristic membrane dynamics regulated by autophagy-related proteins and other molecules, some of which are shared between the two pathways. Over the past few years, the application of new technologies, such as cryo-electron microscopy, coevolution-based structural prediction and in vitro reconstitution, has revealed the functions of individual autophagy gene products, especially in autophagy induction, membrane reorganization and cargo recognition. Concomitantly, mutations in autophagy genes have been linked to human disorders, particularly neurodegenerative diseases, emphasizing the potential pathogenic implications of autophagy defects. Accumulating genome data have also illuminated the evolution of autophagy genes within eukaryotes as well as their transition from possible ancestral elements in prokaryotes.Macroautophagy and microautophagy involve characteristic membrane dynamics regulated by autophagy-related proteins to degrade cytoplasmic material in lysosomes. In this Review, the authors summarize recent progress in elucidating these highly conserved processes, the pathological relevance of autophagy-related genes in Mendelian and complex diseases, and the evolution of the autophagy pathway. Macroautophagy and microautophagy are highly conserved eukaryotic cellular processes that degrade cytoplasmic material in lysosomes. Both pathways involve characteristic membrane dynamics regulated by autophagy-related proteins and other molecules, some of which are shared between the two pathways. Over the past few years, the application of new technologies, such as cryo-electron microscopy, coevolution-based structural prediction and in vitro reconstitution, has revealed the functions of individual autophagy gene products, especially in autophagy induction, membrane reorganization and cargo recognition. Concomitantly, mutations in autophagy genes have been linked to human disorders, particularly neurodegenerative diseases, emphasizing the potential pathogenic implications of autophagy defects. Accumulating genome data have also illuminated the evolution of autophagy genes within eukaryotes as well as their transition from possible ancestral elements in prokaryotes. Macroautophagy and microautophagy involve characteristic membrane dynamics regulated by autophagy-related proteins to degrade cytoplasmic material in lysosomes. In this Review, the authors summarize recent progress in elucidating these highly conserved processes, the pathological relevance of autophagy-related genes in Mendelian and complex diseases, and the evolution of the autophagy pathway. Macroautophagy and microautophagy are highly conserved eukaryotic cellular processes that degrade cytoplasmic material in lysosomes. Both pathways involve characteristic membrane dynamics regulated by autophagy-related proteins and other molecules, some of which are shared between the two pathways. Over the past few years, the application of new technologies, such as cryo-electron microscopy, coevolution-based structural prediction and in vitro reconstitution, has revealed the functions of individual autophagy gene products, especially in autophagy induction, membrane reorganization and cargo recognition. Concomitantly, mutations in autophagy genes have been linked to human disorders, particularly neurodegenerative diseases, emphasizing the potential pathogenic implications of autophagy defects. Accumulating genome data have also illuminated the evolution of autophagy genes within eukaryotes as well as their transition from possible ancestral elements in prokaryotes.Macroautophagy and microautophagy are highly conserved eukaryotic cellular processes that degrade cytoplasmic material in lysosomes. Both pathways involve characteristic membrane dynamics regulated by autophagy-related proteins and other molecules, some of which are shared between the two pathways. Over the past few years, the application of new technologies, such as cryo-electron microscopy, coevolution-based structural prediction and in vitro reconstitution, has revealed the functions of individual autophagy gene products, especially in autophagy induction, membrane reorganization and cargo recognition. Concomitantly, mutations in autophagy genes have been linked to human disorders, particularly neurodegenerative diseases, emphasizing the potential pathogenic implications of autophagy defects. Accumulating genome data have also illuminated the evolution of autophagy genes within eukaryotes as well as their transition from possible ancestral elements in prokaryotes.
Author	Zhang, Sidi Mizushima, Noboru Yamamoto, Hayashi
Author_xml	– sequence: 1 givenname: Hayashi orcidid: 0000-0002-2831-1463 surname: Yamamoto fullname: Yamamoto, Hayashi organization: Department of Biochemistry and Molecular Biology, Graduate School of Medicine, The University of Tokyo, Department of Molecular Oncology, Institute for Advanced Medical Sciences, Nippon Medical School – sequence: 2 givenname: Sidi orcidid: 0000-0003-1993-085X surname: Zhang fullname: Zhang, Sidi organization: Department of Biochemistry and Molecular Biology, Graduate School of Medicine, The University of Tokyo – sequence: 3 givenname: Noboru orcidid: 0000-0002-6258-6444 surname: Mizushima fullname: Mizushima, Noboru email: nmizu@m.u-tokyo.ac.jp organization: Department of Biochemistry and Molecular Biology, Graduate School of Medicine, The University of Tokyo
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/36635405$$D View this record in MEDLINE/PubMed
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Snippet	Macroautophagy and microautophagy are highly conserved eukaryotic cellular processes that degrade cytoplasmic material in lysosomes. Both pathways involve...
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SubjectTerms	631/181/2474 631/208/2489/144 631/337 631/80 Agriculture Animal Genetics and Genomics Autophagy Autophagy - genetics Biology Biomedical and Life Sciences Biomedicine Cancer Research Coevolution Cryoelectron Microscopy Electron microscopy Eukaryota Evolutionary genetics Gene Function Genomes Human Genetics Humans Lysosomes Lysosomes - metabolism Neurodegenerative diseases Prokaryotes Proteins - metabolism Review Review Article
Title	Autophagy genes in biology and disease
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