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

Press ReleaseApril 16, 2019
A thorough characterization of structural variants in human genomes
A recent study used multiple advanced technologies to dive deeper into the human genome than ever before to comprehensively characterize the structural variants present in three families, and what their functional consequences might be.
Research HighlightMarch 08, 2019
Long-range connectivity and gene regulation networks
A complicated three-dimensional network involving proteins and specific DNA sequences helps regulate the expression of genes. New work led by JAX’s Chia-Lin Wei shows how one protein, SOX2, plays a significant role in neural stem cells, affecting many aspects of development and function.
Search MagazineMarch 06, 2019
Finding a better way to fight childhood cancers
Ching Lau is working to find effective therapies and test them against patients’ own tumors in specially made patient derived xenotype (PDX) mice.
Research HighlightFebruary 28, 2019
Two proteins essential for layered sterocilia elongation in the inner-ear
A research team led by Basile Tarchini has found two new proteins that are essential to the correct elongation of stereocilia, tiny hair-like cellular protrusions in the inner ear.

Research HighlightMarch 12, 2019
A closer look at structural variants in the genome
A recent Cell paper uses long-read DNA sequencing and other advanced genomics tools and methods to shed light on genomic structural variants.
Research HighlightMarch 08, 2019
Breaking up is hard to do
New research shows that proteins work together to enable DNA double-strand breaks during meiosis.
- Reproductive Biology
- Genetics and Genomics
Press ReleaseMarch 05, 2019
3D genomics one nucleus at a time
Supported by a recent four-year, $2.3M grant from the National Institute of General Medical Sciences, Wei is looking to develop a method for chromatin interaction analysis in single nuclei, with single-molecule resolution.
- Genetic Tools
- Genetics and Genomics
Press ReleaseFebruary 18, 2019
A crystal ball for looking at the complexity of the 3D genome
A team led by Jackson Laboratory Professor Yijun Ruan, Ph.D., has developed a new method, called ChIA-Drop, that allows researchers to investigate 3D genomic structures with unprecedented precision and clarity.