[EAS]Human Genome

pjk peter.kindlmann at yale.edu
Thu Feb 15 02:29:54 EST 2001

Subject:   Human Genome

A useful compendium about this momentous recent event.  --PJK

from PHYSICS NEWS UPDATE                         
The American Institute of Physics Bulletin of Physics News
Number 526  February 14, 2001

this week in the journals Nature and Science respectively by an
academic consortium coordinated by the National Institutes of
Health and the Department of Energy, and by the corporation
Celera Genomics.  Both groups estimate that humankind's DNA
instruction set has only between 30,000-40,000 genes, only 50%
more than the roundworm and much lower than the 100,000 genes
once estimated for the human species.  But human complexity may
arise in other ways, both teams speculate. For example, a
mechanism known as alternative splicing enables different proteins
to be made from a single gene.  And compared to invertebrates,
humans and other vertebrates apparently make more complex
proteins from similar protein substructures.   Physicists have been
and will continue to play a key part in elucidating the genome,
through developing powerful data analysis methods (Update 491),
finding patterns in so-called junk DNA (non-protein-coding
regions of DNA; Update 202), and introducing faster techniques
for sequencing DNA (Update 171), to name a few of many

The Human Genome Unveiled: Publication of Sequence and Initial
Scientific Analyses
1. "Summary of the Initial Sequencing and Analysis of the Human Genome"
2. "Junk DNA may not be such junk, genome studies find" -- ENN
3. "Genes that count"
4. "A History of the Human Genome Project"
5. The Human Genome -- _Science_ [.pdf]
6. Celera Genomics
7. Human Genome -- _Nature_ [.pdf]
8. US National Human Genome Research Institute

This week's In The News highlights the landmark publication of the
complete human genome sequence and its scientific interpretation.
Spearheaded by two separate approaches and funding sources, the
outcome of some ten years of hard work -- and moments of intense
competition -- is the release of two complete sequences: one led by
Craig Venter of Celera Genomics (a private venture with limited
access to data, previously discussed in the April 7, 2000 _Scout
Report_) and the other by a consortium of publicly funded
laboratories (led by Francis Collins of the National Human Genome
Research Institute (NHGRI)). The two sequences provide an excellent
opportunity for comparison and convergence, opportunities that would
not have been possible through a single approach. Also published this
week are the first scientific analyses of the genome. These initial
analyses uncover new details on the organization of the human genome
and how it evolved -- including the surprising fact that humans have
a smaller number of genes than previously thought, indications that
some human genes may have come directly from bacteria, and
variability in mutation rates among males and females. With these
advances, researchers have begun to unlock the secrets of our genetic
heritage and to better understand our relationship to other living
creatures. Although more work lies ahead to refine and, in some
places, re-sequence the human genome, this first draft, and its
initial interpretation, represents a landmark achievement in science.

The first three resources offer news briefs on the much-anticipated
publication of the human genome sequence and accompanying analyses.
First, this brief from the National Human Genome Research Institute
(NHGRI) comments on the recent publication of the complete draft of
the human genome, representing the combined efforts of thousands of
scientists from many different institutions (1). Second, this
Environmental News Network brief describes the scientific
significance of recent findings (2). A third news brief from _New
Scientist_ highlights the recent advance with emphasis on the initial
analyses of the genome (3); note that full commentary on the
newly-published human genome data will also be published in the
February 17, 2001 issue of _New Scientist_ magazine. For a history of
the Human Genome Project, see this historical summary page from
_Science_ magazine (4). In addition to these brief resources, the
heart of information on the complete human genome sequence and
numerous initial scientific analyses are provided via two main
resources: _Science_ magazine's Special Issue (5), featuring the
sequence spearheaded by Celera Genomics (6), and a complementary
special issue of _Nature_ magazine (7), featuring the sequence led by
the International Human Genome Sequencing Consortium and the US
National Human Genome Research Institute (8). The free online issues
of _Science_ and _Nature_ contain the genome sequences -- with .pdf
maps of each chromosome -- as well as a suite of peer-reviewed
scientific research papers and ethical and historical commentary --
to provide context for this historic breakthrough.

 From The Scout Report for Science & Engineering, Copyright Internet
Scout Project 1994-2001.  http://scout.cs.wisc.edu/

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