Posted on 04/13/2005 6:20:23 PM PDT by PatrickHenry
A detailed analysis of chromosomes 2 and 4 has detected the largest "gene deserts" known in the human genome and uncovered more evidence that human chromosome 2 arose from the fusion of two ancestral ape chromosomes, researchers supported by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), reported today.
In a study published in the April 7 issue of the journal Nature, a multi-institution team, led by [load of names deleted, but available in the original article].
"This analysis is an impressive achievement that will deepen our understanding of the human genome and speed the discovery of genes related to human health and disease. In addition, these findings provide exciting new insights into the structure and evolution of mammalian genomes," said Francis S. Collins, M.D., Ph.D., director of NHGRI, which led the U.S. component of the Human Genome Project along with the DOE.
Chromosome 4 has long been of interest to the medical community because it holds the gene for Huntington's disease, polycystic kidney disease, a form of muscular dystrophy and a variety of other inherited disorders. Chromosome 2 is noteworthy for being the second largest human chromosome, trailing only chromosome 1 in size. It is also home to the gene with the longest known, protein-coding sequence - a 280,000 base pair gene that codes for a muscle protein, called titin, which is 33,000 amino acids long.
One of the central goals of the effort to analyze the human genome is the identification of all genes, which are generally defined as stretches of DNA that code for particular proteins. The new analysis confirmed the existence of 1,346 protein-coding genes on chromosome 2 and 796 protein-coding genes on chromosome 4.
As part of their examination of chromosome 4, the researchers found what are believed to be the largest "gene deserts" yet discovered in the human genome sequence. These regions of the genome are called gene deserts because they are devoid of any protein-coding genes. However, researchers suspect such regions are important to human biology because they have been conserved throughout the evolution of mammals and birds, and work is now underway to figure out their exact functions.
Humans have 23 pairs of chromosomes - one less pair than chimpanzees, gorillas, orangutans and other great apes. For more than two decades, researchers have thought human chromosome 2 was produced as the result of the fusion of two mid-sized ape chromosomes and a Seattle group located the fusion site in 2002.
In the latest analysis, researchers searched the chromosome's DNA sequence for the relics of the center (centromere) of the ape chromosome that was inactivated upon fusion with the other ape chromosome. They subsequently identified a 36,000 base pair stretch of DNA sequence that likely marks the precise location of the inactived centromere. That tract is characterized by a type of DNA duplication, known as alpha satellite repeats, that is a hallmark of centromeres. In addition, the tract is flanked by an unusual abundance of another type of DNA duplication, called a segmental duplication.
"These data raise the possibility of a new tool for studying genome evolution. We may be able to find other chromosomes that have disappeared over the course of time by searching other mammals' DNA for similar patterns of duplication," said Richard K. Wilson, Ph.D., director of the Washington University School of Medicine's Genome Sequencing Center and senior author of the study.
In another intriguing finding, the researchers identified a messenger RNA (mRNA) transcript from a gene on chromosome 2 that possibly may produce a protein unique to humans and chimps. Scientists have tentative evidence that the gene may be used to make a protein in the brain and the testes. The team also identified "hypervariable" regions in which genes contain variations that may lead to the production of altered proteins unique to humans. The functions of the altered proteins are not known, and researchers emphasized that their findings still require "cautious evaluation."
In October 2004, the International Human Genome Sequencing Consortium published its scientific description of the finished human genome sequence in Nature. Detailed annotations and analyses have already been published for chromosomes 5, 6, 7, 9, 10, 13, 14, 16, 19, 20, 21, 22, X and Y. Publications describing the remaining chromosomes are forthcoming.
The sequence of chromosomes 2 and 4, as well as the rest of the human genome sequence, can be accessed through the following public databases: GenBank (www.ncbi.nih.gov/Genbank) at NIH's National Center for Biotechnology Information (NCBI); the UCSC Genome Browser (www.genome.ucsc.edu) at the University of California at Santa Cruz; the Ensembl Genome Browser (www.ensembl.org) at the Wellcome Trust Sanger Institute and the EMBL-European Bioinformatics Institute; the DNA Data Bank of Japan (www.ddbj.nig.ac.jp); and EMBL-Bank (www.ebi.ac.uk/embl/index.html) at EMBL's Nucleotide Sequence Database. [Links in original article.]
NHGRI is one of the 27 institutes and centers at NIH, an agency of the Department of Health and Human Services. The NHGRI 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 www.genome.gov.
fb4p's proverbs:
III - Beware the humorless man.
Beware the faux libertarian sucking on the public teat.
Last I checked, Catholics are Christian.
"centromere" I don't use the metric system, what's this about half an inche?"
Let's see:
Centro - probably something 100
Mere - has to be merely, what else?
So maybe "Merely a hunnert footes or maybe a couple dozen rods or sumpin'"
Hope that helps
"It's been so long since I've replicated, I didn't know they moved it!"
"He made us out of the same protiens because he made us out of the same kinds atoms - which work in the same way."
Perhaps derheim will take a chemistry course some day and realize how silly this statement is.
Huh?
There's a lot of "huh's" tonight.
Why i said, i'm not catholic is first of i'm not but also because I dont believe one man(The Pope) can speak for a whole faith. He is just a man and men make mistakes. His states the theroy is possible, he doesnt say he believes it.
Yeah, I think we lost the "hair all over" gene ...
I figured we'd lost the 'fling feces as a show of dominance' gene, but that was before I listened to Al Franken.
As far as the Catholic Church is concerned, the Pope is infallible (I'm more likely to agree with you that he is just a man, but a special sort of man).
The Pope never says or writes anything without thorough study and making sure it fits the faith. The fact that he said or wrote those words above, means that he believed it and that it is now officially a piece of the Catholic faith.
So you are now in open conflict with JP II. Do you have the credentials and the years of thorough study to stand up to his words? You may not like them, but to question him is to question one of the great theologians of the 20th century. Is that reason to question your conclusions?
And, before you ask, I am also not a Catholic.
Like I said i have no problems being in disagreement with a man, I do not have a disagreement with the bible. Genesis is clear as day.
I thought of a couple ways to respond to your question, but couldn't bring myself to post them.
Well I congratulate you for your chutzpah, but it can also be a form of self-induced blindness.
"Creationism is knowing when not to look."
Evolution is thinking you know all the answers when you don't. Of course you could say the same thing about creation.
I'll give you evolutionists a head start. Cut off all of your fingers and toes. Surely some of you will grow new fingers and toes or perhaps your fingers and toes will grow new evolutionists.
I admire your faith.
Hey AntiGuv, keep this JP II quote handy. He does a great job defining "theory" and how theories are "supported" by observations. Maybe some of the creationoids will read his words while they would just ignore PH's list of links.
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