Jackson Laboratory

The Dumont Lab

Principal Investigator: Beth Dumont, Ph.D.

The Jackson Laboratory
Bar Harbor, ME

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Researching the mechanisms that generate genetic diversity through the lens of evolution

Our Research Focus

The broad objective of my research program is to understand the causes and consequences of variation in the cellular mechanisms that govern DNA inheritance: genetic recombination, chromosome segregation, and de novo mutation. To date, my work has combined wet-bench and computational approaches in multiple mammalian model systems to investigate variation in two recombination mechanisms, crossing-over and gene conversion. Over the next several years, my research group will work at the leading edge of genomics, evolutionary genetics, and cytogenetics to advance our understanding of recombination rate variation from diverse biological perspectives.

Full Scientific Report

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Open Positions

Job	Job Title	Location	Description

Lab Staff

Uma Arora

PhD Student

Investigating the composition and diversity of centromeric sequence amongst Mus musculus subspecies and autosomes vs sex chromosomes to understand their significance in evolution.
Laura Blanco-Berdugo, MS

Research Assistant II

Interested in genetic diversity and evolution of wild and wild-derived mice
Beth Dumont, Ph.D.

Assistant Professor
Brett Haines, B.S.

Research Assistant
Raman Akinyanju Lawal, Ph.D.

Postdoctoral Associate

Unraveling the patterns of genetic mechanisms that give rise to genetic diversity in house mouse populations.

Selected Publications

Highlighted Abstract

Knowledge of the rate and pattern of new mutation is critical to the understanding of human disease and evolution. We used extensive autozygosity in a genealogically well-defined population of Hutterites to estimate the human sequence mutation rate over multiple generations. We sequenced whole genomes from 5 parent-offspring trios and identified 44 segments of autozygosity. Using the number of meioses separating each pair of autozygous alleles and the 72 validated heterozygous single-nucleotide variants (SNVs) from 512 Mb of autozygous DNA, we obtained an SNV mutation rate of 1.20 × 10(-8) (95% confidence interval 0.89-1.43 × 10(-8)) mutations per base pair per generation. The mutation rate for bases within CpG dinucleotides (9.72 × 10(-8)) was 9.5-fold that of non-CpG bases, and there was strong evidence (P = 2.67 × 10(-4)) for a paternal bias in the origin of new mutations (85% paternal). We observed a non-uniform distribution of heterozygous SNVs (both newly identified and known) in the autozygous segments (P = 0.001), which is suggestive of mutational hotspots or sites of long-range gene conversion.

View full list of publications

Blog PostJanuary 24, 2020
Using prenatal cell-free DNA screening to prepare for a gender reveal
The American College of Obstetricians and Gynecologists (ACOG) recommends that both aneuploidy screening and diagnostic testing options be offered to all pregnant women.
- Reproductive Biology
- Genetics and Genomics
Tech CornerJanuary 21, 2020
5 questions with Katja Brose
Chan Zuckerberg Initiative (CZI) Science Program Officer Katja Brose visited JAX to speak about CZI and moderate an Alzheimer’s disease research panel discussion at the JAX Healthcare Forum, an annual gathering of leaders in a wide variety of healthcare fields. JAX was able to catch up with Dr. Brose after her sessions.
Blog PostDecember 20, 2019
Genomic medicine, a decade later
Genomic research has made tremendous progress over the past decade. So what are the next steps, especially for bringing research discoveries into the clinic?
Blog PostNovember 27, 2019
Assessing Patient Health Risks with Limited or Unknown Family History
Strategies for assessing health risks in patients with limited or unknown family health history.

Press ReleaseJanuary 21, 2020
Andy Greene changes teams
Distinguished biomedical engineer and researcher comes to The Jackson Laboratory
- Genetic Tools
- Genetics and Genomics
Blog PostDecember 23, 2019
Genetic testing can decrease but not rule out cancer risk
Breast cancer risk assessment is increasingly included in primary care. As a rule of thumb, approximately 5-10% of individuals with a breast cancer diagnosis will be found to carry a pathogenic variant (mutation).
Press ReleaseDecember 05, 2019
Mighty mice head to space on important health mission
Researchers from JAX, UConn Health, and Connecticut Children’s sent genetically-engineered “Mighty Mice” to the International Space Station to learn about the effect of microgravity on muscle and bone loss.
Press ReleaseNovember 26, 2019
Gary Churchill elected as AAAS Fellow
The American Association for the Advancement of Science (AAAS) has elected Jackson Laboratory Professor Gary Churchill as an AAAS Fellow, one of the nation's highest scientific distinctions.