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Principal Investigator: MOLLY F PRZEWORSKI
Organization: COLUMBIA UNIV NEW YORK MORNINGSIDE
Fiscal Year: 2024
Award: $148,553
Funding agency: National Institute of General Medical Sciences
PROJECT SUMMARY
Mutation and meiotic recombination are the sources of all genetic variation, the fuel of evolution,
and the ultimate cause of heritable diseases and of many cancers. Consequently, their rates and
properties are of fundamental interest, as well as key parameters in almost any population or
human genetic study. Yet many aspects of these processes remain poorly understood. Notably,
despite strong constraints on both mechanisms–how deleterious errors in recombination or
abnormal numbers of mutations can be–they evolve rapidly over time and differ markedly across
species. My group takes advantage of this variation within humans and between species, using it
as a tool to learn about the underlying processes of mutagenesis and meiotic recombination. To
this end, we combine mathematical modeling, statistical data analysis, and genomic approaches
in humans and a broad range of non-model organisms. Ongoing work is concentrated along two
main axes: (1) Elucidating sources of point mutations and causes of differences in germline
mutagenesis between human sexes and across amniotes; and (2) Characterizing the strategies
used by different vertebrate species to direct meiotic double strand breaks to the genome and
understanding their evolution. Ultimately, our goal is to elucidate not only how but also why these
fundamental genetic processes differ across individuals and species. Answers to these questions
have important implications for human and evolutionary genetics, as well as for cancer biology.
Terms: <Cancer Biology><Cancers><DNA Recombination><Disease><Disorder><Evolution><Genetic><Genetic Alteration><Genetic Change><Genetic Diversity><Genetic Processes><Genetic Recombination><Genetic Variation><Genetic defect><Genetic study><Genetics-Mutagenesis><Genome><Genomic approach><Germ Lines><Goals><Heritability><Human><Human Genetics><Individual><Learning><Malignant Neoplasms><Malignant Tumor><Math Models><Meiosis><Meiotic Recombination><Modern Man><Mutagenesis><Mutagenesis Molecular Biology><Mutation><Organism><Point Mutation><Population Genetics><Process><Property><R-Series Research Projects><R01 Mechanism><R01 Program><Recombination><Research Grants><Research Project Grants><Research Projects><Source><Statistical Data Analyses><Statistical Data Analysis><Statistical Data Interpretation><Time><Variant><Variation><Vertebrate Animals><Vertebrates><Work><genome mutation><genomic effort><genomic strategy><interest><living system><malignancy><mathematic model><mathematical model><mathematical modeling><meiotic><neoplasm/cancer><sex><statistical analysis><tool><vertebrata>