Heritable Mutation and Disease

SIG Leaders

Carole L. Yauk and Francesco Marchetti

SIG Description

The Heritable Mutation and Disease Special Interest Group is for scientists interested in heritable mutagenesis, the challenges of finding human genomic DNA damaging agents, germ-cell and stem-cell mutagens, and the consequences of these mutations to health.

Interests

• The study of germ cell biology as it relates to heritable mutagenesis.
• Characterization of heritable (germline) mutagenesis in the etiology of disease.
• Determining if deleterious heritable mutations arise through actions of exogenous chemical, physical or biological agents.
• Interpreting the consequences of heritable alterations to the devising methods through use of new technologies for studying presumptive human mutagens.
• Understanding new processes (e.g., epigenetics) and their role in genomic stability.
• Serving as a focal point for discussions of heritable genomic and stem-cell mutagenesis research.

Summary of Breakfast Meeting in St. Louis

The HMD special interest group restructured their meeting to allow more time for discussion over breakfast this year. General business was the first topic and the members agreed that a meeting later in the day should be explored for our SIG gathering in 2010. We discussed issues to enhance website content for the SIG, and various items were identified as important. Dr. Jack Bishop agreed to work towards developing better web content. We also ran an election for new co-chairs for the SIG, following the recommendations of the Executive Board. Our new co-chairs will be comprised of one of the existing chairs (Carole Yauk) and one incoming chair (Francesco Marchetti). The group had stimulating discussions on the work presented by Dr. Francesco Marchetti on the role of Bub1 in the maintenance of proper chromosome segregation in the female germline, followed by a presentation by Dr. Yuri Dubrova on the biology of expanded simple tandem repeats. A stimulating discussion followed on the potential biological meaning of repeat instability, and the lack of a phenotype associated with inherited mutation. Mechanisms and ideas to move the field forward were debated.

Summary of Breakfast Meeting in Puerto Rico

The GeSteHug special interest group had a busy and informative meeting on Monday, October 21, 2008, in Puerto Rico. A number of presentations were delivered spanning different model organisms, types of mutations and processes including: (a) how transcription may influence rates of base pair substitution in yeast (Mac Lippert), (b) methods for detecting and quantifying homologous recombination hotspots (Norm Arnheim), (c) the role of DMN in sex deviation and in male-mediated trans-generational effects in Drosophila (Patricial Ramos Morales) and (d) targeted and non-targeted tandem repeat mutations in male and female mice exposed in utero to diesel exhaust particles (Lynn Berndt-Weis, Carole Yauk). An overview of new massively parallel sequencing approaches was delivered by Steve Sommer. The presentations were followed by a stimulating discussion led by Dr. John Mulvihill on a proposal to study germline mutation rates in childhood cancer survivors. Discussions centered on the most appropriate tools available for studying inherited mutations, and what are the advantages and disadvantages of these approaches.

Favorite Papers of 2010

Ossowski S, Schneeberger K, Lucas-Lledó JI, Warthmann N, Clark RM, Shaw RG, Weigel D, Lynch M. The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana.
Science. 2010 Jan 1; 327(5961): 92–4

Favorite Papers of 2009

International Agency for Research on Cancer Monograph Working Group, Special Report: Policy A review of human carcinogens—Part E: tobacco, areca nut, alcohol, coal smoke, and salted fish.
The Lancet 2009 10, 1033–1034.

Recent Papers in Germ Cell Research from GeSteHug members