Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
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In this issue...
In the News
Web, Publications, Resources
Meeting Calendars & Acronyms
ORNL Mouse Program Provides Powerful Tools for Studying Human Genes
Connecting Sequence and Function
Sequencing genomes was the easy part. Some major challenges facing the new era of post-sequencing biology include finding all genes and deducing their functions, elucidating the connections between mutations and disease, and untangling the complex networks of interactions controlling all these processes in living systems. Model organisms such as the mouse, whose genes and DNA regulatory regions are remarkably similar to those of humans, provide powerful tools for illuminating our own genetic material.
Researchers in the Mouse Genetics and Genomics (MGG) section at Oak Ridge National Laboratory (ORNL) are using mouse genetics and mutagenesis strategies to annotate biologically important features of the DNA sequence and to provide functional information for parts of the genome that are expressed or that regulate gene expression. A complementary effort exploits genome data for a better understanding of normal and abnormal biological processes defined by genetic and phenotypic analyses of mouse mutations.
Human Disease Models
MGG is evaluating specific candidate genes for induced mutations leading to (1) abnormal hematopoiesis (production of red blood cells), iron transport, and skeletal development; (2) abnormal brain function, resulting in epilepsy; (3) defective kidney function, resulting in juvenile death; (4) perinatal death, possibly due to skull or brain abnormalities; (5) early embryonic death due to a failure of yolk-sac hematopoiesis; (6) defective skin function, leading to alopecia and increased risk of skin cancer; and (7) modification of the agouti signaling pathway involved in pigmentation, obesity, diabetes, and cancer.
The electronic form of the newsletter may be cited in the following style:
The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.
Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.