Longest Chromosome Sequence Released
Wed January 1, 2003 03:05 PM ET
By Alison McCook
NEW YORK (Reuters Health) - Adding another volume to the growing
library of genetic information, an international group of
researchers released the full sequence of chromosome 14, the longest
chromosome ever sequenced.
The newest human sequencing endeavor holds promise in the fights
against numerous diseases, the authors note: chromosome 14 contains
genes linked to crucial immune system function, as well as genes
associated with more than 60 diseases. These diseases include
early-onset Alzheimer's and other neurodegenerative problems.
Identifying the sequences of the genes that can lead to these
devastating diseases may one day help treat them, according to study
author Roland Heilig of the Genoscope-Center National de Sequencage
in Evry, France.
Human cells generally contain 23 pairs of chromosomes, with each
pair containing a chromosome from each parent. These structures
carry the genes-a segment of DNA with a particular purpose--that
contain the instructions for the body's development and function.
Heilig and his colleagues discovered that chromosome 14 contains
1,050 genes and gene fragments. The chromosome also appears to
contain 393 non-active "pseudogenes."
In an interview with Reuters Health, Heilig said that he and his
colleagues hope that the sequencing of chromosome 14 will prove
"useful for the identification of genetic diseases."
Chromosome 14 carries genes linked to a number of conditions,
including early-onset Alzheimer's disease, which can strike as early
as the mid- to late-30s.
Other diseases with genes present on this chromosome are spastic
paraplegia, neurodegenerative conditions marked by progressive
weakness and stiffness in the legs, and Usher syndrome, which
results in early hearing loss and gradual loss of vision.
Sequencing the abnormal forms of the genes that cause disease may
one day lead to new treatments for those conditions. Heilig
suggested that researchers could possibly mold new therapies around
the proteins manufactured by abnormal genes. And although gene
therapy techniques have had limited success, future endeavors may
one day succeed in replacing an abnormal copy of a gene with a
healthy copy, he noted.
"The sequence permits you to know the function of the gene, and
maybe to discover some drugs that restore the protein for the gene,"
Heilig said.
Heilig noted that chromosome 14 is the 4th chromosome sequenced,
and unlike previous sequences, the newest sequence is known in its
entirety.
"The sequence is in one continuous piece, with no gap," Heilig
said.
Other researchers involved in the sequencing hail from the
Institute for Systems Biology in Seattle, Washington, and the Genome
Sequencing Center at Washington University in St. Louis, Missouri.
SOURCE: Nature 2003;doi:10.1038/nature01348. |