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Ann N Y Acad Sci. 2019 Sep;1452(1):3-11. doi: 10.1111/nyas.14126. Epub 2019 Jun 14.

Phase separation in biology and disease-a symposium report.

Author information

1
Science Writer, New York, New York.
2
Department of Chemical and Biological Engineering, Princeton University, Princeton, New Jersey.
3
Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
4
Departments of Biochemistry and Physiology and Biophysics, Albert Einstein College of Medicine, Bronx, New York.
5
Department of Biomedical Engineering, Center for Science and Engineering of Living Systems, McKelvey School of Engineering, St. Louis, Missouri.
6
Departments of Biology and Chemistry, Program in Neuroscience, Syracuse University, Syracuse, New York.
7
Departments of Genetics and Development, Columbia University, New York, New York.
8
University of Texas Southwestern Medical Center, Dallas, Texas.
9
Department of Molecular Biology, Princeton University, Princeton, New Jersey.
10
Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, California.
11
Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, Tennessee.
12
Department of Molecular Pharmacology, Physiology and Biotechnology, Brown University, Providence, Rhode Island.

Abstract

Phase separation of multivalent protein and RNA molecules enables cells the formation of reversible nonstoichiometric, membraneless assemblies. These assemblies, referred to as biomolecular condensates, help with the spatial organization and compartmentalization of cellular matter. Each biomolecular condensate is defined by a distinct macromolecular composition. Distinct condensates have distinct preferential locations within cells, and they are associated with distinct biological functions, including DNA replication, RNA metabolism, signal transduction, synaptic transmission, and stress response. Several proteins found in biomolecular condensates have also been implicated in disease, including Huntington's disease, amyotrophic lateral sclerosis, and several types of cancer. Disease-associated mutations in these proteins have been found to affect the material properties of condensates as well as the driving forces for phase separation. Understanding the intrinsic and extrinsic forces driving the formation and dissolution of biomolecular condensates via spontaneous and driven phase separation is an important step in understanding the processes associated with biological regulation in health and disease.

KEYWORDS:

biomolecular condensates; granules; membraneless organelles; phase diagram; phase separation; protein disorder

PMID:
31199001
PMCID:
PMC6751006
[Available on 2020-09-01]
DOI:
10.1111/nyas.14126

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