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.
Beth Dumont, Ph.D.

Assistant Professor
Brett Haines, B.S.

Research Assistant

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

Tech CornerJuly 17, 2019
Improved methods, expanded capabilities: Analyzing cells one at a time
Researchers are able to do many things today that were impossible five, three, even one year ago. Some of the new options are science-fiction-level impressive.
Search MagazineJuly 02, 2019
Who does what in a lab: scientist job titles explained
Ever wonder who does what in a research lab? We joined the Bolcun-Filas group for a day to learn about the scientists who work together on female fertility.
Tech CornerJune 17, 2019
The genome of Eve (the mouse)
C57BL/6—aka Black 6—is the most widely used mouse strain in research. Its reference genome was published in 2003 and has been carefully curated over the years since.
Search MagazineMay 22, 2019
JAX scientists speak out on the crisis of opioid addiction
JAX scientists are intensifying their efforts to shed light on the genetic and neurobiological causes of addiction, along with the impact of environmental influences.

Press ReleaseJuly 15, 2019
Research team creates new research models for Snyder-Robinson Syndrome
Two new mouse models created to study neurological developments in Snyder-Robinson Syndrome to advance global understanding of this rare disease.
Search MagazineJune 18, 2019
Connected through Science
When Isabelle Chen, a senior at The Ethel Walker School in Simsbury, Conn., met Ann Bresnahan ‘69 during a science alumnae panel discussion at Bresnahan’s 50-year high school reunion, the two knew that they shared a passion for science.
Featured ArticleMay 29, 2019
Making a community impact beyond the bench
A JAX postdoctoral associate was recently awarded a fellowship in Science Policy from the Society for Industrial and Applied Mathematics that will allow him to advocate for support of science research with federal officials and congressional staff.
Research HighlightMay 20, 2019
Revealing cellular traits, one cell at a time
Scientists have developed an expanded toolkit that enables investigations of cellular traits at the single cell level at an unprecedented level of detail.