NHGRI ANNOUNCES LATEST SEQUENCING TARGETS

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U.S. Department of Health and Human Services 
NATIONAL INSTITUTES OF HEALTH 
NIH News 
National Human Genome Research Institute (NHGRI) 
http://www.genome.gov/

FOR IMMEDIATE RELEASE: Wednesday, July 19, 2006

CONTACT: Geoff Spencer, 301-401-0911, spencerg@xxxxxxxxxxxx

NHGRI ANNOUNCES LATEST SEQUENCING TARGETS

Bethesda, Maryland -- The National Human Genome Research Institute
(NHGRI), one of the National Institutes of Health (NIH), today announced
several new sequencing targets including the Northern white-cheeked
gibbon ("Nomascus leucogenys"), setting the stage for completing a quest
to sequence the genome of at least one non-human primate genome from
each of the major positions along the evolutionary primate tree and
making available an essential resource for researchers unraveling the
genetic factors involved in human health and disease. Comparing the
genomes of other species to humans is an exceptionally powerful tool to
help researchers understand the working parts of the human genome in
both health and illness.

NHGRI's Large-Scale Sequencing Research Network and their international
partners have already sequenced or been approved to sequence at
high-density coverage the genomes of several non-human primates
including the chimpanzee ("Pan troglodytes"), rhesus macaque ("Macaca
mulatto"), orangutan ("Pongo pygmaeus"), marmoset ("Callithrix jacchus")
and gorilla ("Gorilla gorilla").

"The gibbon genome sequence will provide researchers with crucial
information when comparing it to the human genome sequence and other
primate genomes, shedding light on molecular mechanisms implicated in
human health and disease -- from infectious diseases and neurological
disorders to mental illness and cancer," said NHGRI Director Francis S.
Collins, M.D., Ph.D.

The gibbon genome is unique because it carries an extraordinary high
number of chromosome rearrangements, even when compared to other
primates. These rearrangements occur when small or large segments of a
chromosome become detached and reattach to the same chromosome or
another chromosome. Such chromosomal rearrangements can wreak havoc on a
cell, and can contribute to birth defects or cancer in humans. The
gibbon genome will also help scientists better understand rearrangements
called segmental duplications which are large, almost identical copies
of DNA, present in at least two locations in the human genome. A number
of diseases are known to be associated with mutations in segmental
duplicated regions, including a form of mental retardation and other
neurological and birth defects.

Segmental duplications cover 5.3 percent of the human genome,
significantly more than in the rat genome, which has about 3 percent, or
the mouse genome, which has between 1 and 2 percent. Segmental
duplications provide a window into understanding how the human genome
evolved and how it may still be changing. The high proportion of
segmental duplications in the human genome shows how human genes have
undergone rapid functional innovation and structural change during the
last 40 million years, presumably contributing to unique characteristics
that separate humans from non-human primate ancestors.

With the sequencing of major primate genomes, researchers are able to
more precisely study the differences between primates and humans. For
instance, an analysis of the chimpanzee genome sequence has revealed
three key genes involved in inflammation have been deleted in the
chimpanzee genome, possibly explaining some of the known differences
between immune and inflammatory responses of chimps and humans.
Identifying these genes gives researchers a more precise starting point
for understanding molecular pathways and developing better diagnostics
and therapies involved in immune and inflammatory diseases.

In addition, some primates are important biomedical models because of
their genetic, physiologic and metabolic similarities with humans. For
example, the rhesus macaque is an essential research model for drug
development, neuroscience, behavioral biology, reproductive physiology,
endocrinology, and cardiovascular studies. In addition, because it can
be infected with simian immunodeficiency virus, a close cousin to the
human immunodeficiency virus (HIV), the rhesus is widely recognized as
the best animal model for research on Acquired Immune Deficiency
Syndrome, or AIDS. It also serves as a valuable model for studying other
human infectious diseases and for vaccine research, most recently for
the virus causing Severe Acute Respiratory Syndrome, or SARS.

Comparing the human genome with the genomes of other non-human primates
and other organisms has been shown to be an effective tool for
identifying the function and structure of genes. Most sections of the
human genome originated long before humans themselves. Consequently,
scientists can use genome sequences of strategically selected organisms
to learn more about how, when and why the genomes of humans and other
mammals came to be composed of certain DNA sequences.

The latest sequencing plan, which includes the gibbon, was recently
approved by the National Advisory Council for Human Genome Research, a
federally chartered committee that advises NHGRI on program priorities
and goals. It also consists of a set of organisms whose genome sequence
will add to the comprehensive strategic list of priority targets for
genomic sequencing by the NHGRI's Large-Scale Sequencing program.

Seven mammals which have been previously approved to be sequenced at
low-density genome coverage have been targeted to now be sequenced at
high-density genome coverage. The refined genome sequences will improve
the accuracy of comparisons between mammalian genomes, one of the most
effective ways to pinpoint the roughly 5 percent of the 3-billion base
pair human genome that is most obviously functional.

The seven mammals to be sequenced are: the nine-banded armadillo
("Dasypus novemcinctus"); domestic cat ("Felis catus"); guinea pig
("Cavia porcellus"); African savannah elephant ("Loxodonta Africana");
tree shrew ("Tupaia species"); rabbit ("Oryctolagus cuniculus"); and a
bat species that will be determined based on the availability of a
high-quality DNA sample and the selected bat's promise as a biomedical
model. NHGRI has recently approved the sequencing of the horse ("Equus
caballas") to high-density genome coverage.

A set of five fungi, known as dermatophytes, and which are the most
common sources of human fungal disease, will also have their genomes
sequenced. Dermatophyte fungi are highly communicable and infect
millions of people worldwide leading to costs of approximately $400
million a year for treatment alone. The dermatophytes to be sequenced
are "Trichophyton rubrum", "Microsporum canis" and "Microsporum
gypseum", all which will be sequenced to a high-density genome coverage;
and "Trichophyton tonsurans" and "Trichophton equinum", both of which
must be sequenced to a medium-density genome coverage. Scientists then
will be able to compare the genome sequence information from these
organisms to determine which genes are responsible for the differences
in infectivity. Those genes will be logical starting points for
developing more effective diagnostic, prevention and treatment
approaches to fungal infections in both humans and animals.

Also selected in the latest round is a project to sequence up to 50
strains of the yeast "Saccharomyces cerevisiae". The genome of
"Saccharomyces cerevisiae" was first completed in 1996 and is a primary
model for studying variations in genomes that can contribute to health
and disease. The genomic data provided by this effort will allow
researchers to develop basic tools to better understand human variation,
such as distinguishing functional from non-functional variations within
genes.

A final set of sequencing targets was chosen to address the question:
What genes and other genomic features were responsible for the origin of
multi-celled organisms? More than 1 billion years ago, two of the major
multi-cellular groups of organisms (fungi and animals) shared a
single-celled ancestor. This project targets ten of the earliest
branches of animals and fungi along with some of their single-celled
relatives providing, for the first time, comprehensive data to fill gaps
in our understanding of animal and fungal evolution. Recent research has
shown that some genes in the human genome that are responsible for early
animal development arose much earlier than thought, in some cases in
single-celled organisms. Therefore, this set of ten targets is likely to
reveal the origins of other genes important for multi-cellularity in all
such animals, including humans. The ten targets, all of which involve
relatively small genomes, include six to be sequenced at high-density
genome coverage: "Capsaspora owczarzaki"; "Sphaeroforma arctica"; an
"Amastigomonas species"; a "Salpingoeca" or "Codosiga species";
"Allomyces macrogynus"; and "Nucleria simplex"; and four to be sequenced
at low-density genome coverage: "Amoebidium parasiticum"; "Mortierella
verticilllata"; "Spizellomyces punctatus"; and a "Stophanoeca" or
"Acanthocoepis species".

NHGRI's Large-Scale Sequencing Research Network also includes a
portfolio of medical sequencing projects. These projects are designed to
use high-throughput sequencing resources to lead to significant medical
advances. As more is learned from sequencing and other studies about the
genomic contribution to disease, and as the cost of obtaining sequence
information decreases, genomic sequence information will become ever
more important both for medical research and for providing medically
relevant information to individuals. When it becomes affordable for an
individual's genome to be fully sequenced, genomic information will
allow estimates of future disease risk for individuals, as well as
improve prevention, diagnosis, and treatment.

Projects given the highest priority will use large-scale sequencing over
the next few years to identify the genes responsible for dozens of
relatively rare, single-gene (autosomal Mendelian) diseases; sequence
all of the genes on the X chromosome from affected individuals to
identify those involved in sex-linked diseases; and to survey the range
of variants in genes known to contribute to some common diseases.

An example of a medical sequencing project launched last year is The
Cancer Genome Atlas (TCGA) pilot project, a groundbreaking effort
between NHGRI and the National Cancer Institute that seeks to
systematically characterize the genetic changes that occur in cancer.
Information on TCGA is available at http://cancergenome.nih.gov.

Sequencing work on approved targets are carried out by the
NHGRI-supported, Large-Scale Sequencing Research Network, which consists
of five centers: Agencourt Bioscience Corp., Beverly, Mass.; Baylor
College of Medicine, Houston; the Broad Institute of MIT and Harvard,
Cambridge, Mass.; the J. Craig Venter Institute, Rockville, Md.; and
Washington University School of Medicine, St. Louis. Assignment of new
organisms to a specific center or centers will be determined at a later
date.

NHGRI's process for selecting sequencing targets begins with three
working groups comprised of experts from across the research community.
Each of the working groups is responsible for developing a proposal for
a set of genomes to sequence that would advance knowledge in one of
three important scientific areas: to identify areas in genetic research
where the application of high-throughput sequencing resources would
rapidly lead to significant medical advances; understanding of the human
genome; and understanding the evolutionary biology of genomes. A
coordinating committee then reviews the working groups' proposals,
helping to fine-tune the suggestions and integrate them into an
overarching set of scientific priorities. The recommendations of the
coordinating committee are reviewed and approved by one of NHGRI's
advisory groups, The National Advisory Council for Human Genome
Research, which in turn forwards its recommendations to NHGRI
leadership. For more on the selection process, go to:
www.genome.gov/Sequencing/OrganismSelection.

A complete list of organisms and their sequencing status can be viewed
at www.genome.gov/10002154. High-resolution photos of many of the
organisms being sequenced in NHGRI's Large-Scale Sequencing Program are
available at: www.genome.gov/10005141.

The NHGRI's Division of Extramural Research supports grants for research
and for training and career development at sites nationwide. Additional
information about NHGRI can be found at its Web site, www.genome.gov.  

The National Institutes of Health (NIH) -- "The Nation's Medical
Research Agency" -- includes 27 Institutes and Centers and is a
component of the U.S. Department of Health and Human Services. It is the
primary federal agency for conducting and supporting basic, clinical and
translational medical research, and it investigates the causes,
treatments, and cures for both common and rare diseases. For more
information about NIH and its programs, visit www.nih.gov.
  
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This NIH News Release is available online at:
http://www.nih.gov/news/pr/jul2006/nhgri-19.htm.

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