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.
Glenn Smallidge

Research Administrative Assistant II

Provide Research Administrative Support for several faculty members.
Lydia Wooldridge, Ph.D.

Postdoctoral Associate

To study the evolution of genes related to fertility and sexual reproduction, and to use this information to understand infertility in humans.

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

Research HighlightSeptember 22, 2020
Finding ways to TREAT Alzheimer's disease
The quest to find a cure for Alzheimer’s disease (AD) has almost entirely met with failure at the clinical trial stage. Nonetheless, there have been research advances, particularly during the last few years, that are laying the foundation for progress in the years ahead.
Press ReleaseSeptember 15, 2020
Scaling up the assault on rare diseases
New five-year NIH grant totaling $10.6M funds JAX center to fast-track treatment-focused research for rare genetic disorders.
- Rare Diseases
- Genetics and Genomics
Press ReleaseSeptember 08, 2020
2020 JAX Scholar recipients announced
The posdoctorate associate researchers were selected based on their cutting-edge research and exemplifying a well-rounded 21st-century member of the scientific community.
Press ReleaseAugust 18, 2020
Tracking down structural variants in cancer
National Cancer Institute grant to JAX will fund the development of new tools to identify and analyze structural variants and their functional impacts in tumors.

Search MagazineSeptember 16, 2020
Raising hope for Hasti
Chris Brannigan has recently completed a 700 mile trek barefoot across England to raise awareness for the rare disease affecting his daughter Hasti: Cornelia de Lange syndrome (CdLS). The march took 35 days, but it is only the start of the Brannigan’s rare disease odyssey.
- Rare Diseases
- Genetics and Genomics
Press ReleaseSeptember 09, 2020
What keeps sperm production going?
JAX Professor Bob Braun has received new funding to study the genetic factors involved in spermatogonial stem cell turnover and maintenance, a vital aspect of human fertility.
Research HighlightSeptember 01, 2020
Genetically diverse mice reveal a mechanism of cognitive decline
Cross-species analyses identify Dlgap2 as a regulator of age-related cognitive decline and Alzheimer’s dementia.
Research HighlightAugust 17, 2020
Extra-chromosomal DNA and cancer
The role(s) that extra-chromosomal DNA (ecDNA) may play in cancer have been the subject of speculation, but details have been elusive. Now, a paper in Nature Genetics implicates ecDNA in a wide variety of cancers, and associates it with aggressive, difficult-to-treat cases.