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Scientists Analyze Chromosomes 2 and 4: Discover Largest "Gene Deserts"
National Human Genome Research Institute ^ | 06 April 2005 | Staff

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.


TOPICS: Culture/Society; Miscellaneous; Philosophy
KEYWORDS: chromosomes; crevolist; dna; evolution; genetics
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To: Echo Talon
you keep saying "He" hmmm are you a sexist along with being an atheist?

"He" refers to the God described in the Bible. You're the literalist, you tell me, is God male or female?

281 posted on 04/15/2005 9:39:43 AM PDT by Modernman ("I'm in favor of limited government unless it limits what I want government to do."- dirtboy)
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To: Modernman
Your the scientist you tell me.
282 posted on 04/15/2005 9:43:32 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Echo Talon
Your the scientist you tell me.

Science cannot, nor does it even attempt to, describe the supernatural.

So, is God male or female? Does He have two legs, two arms and genitalia?

283 posted on 04/15/2005 9:45:19 AM PDT by Modernman ("I'm in favor of limited government unless it limits what I want government to do."- dirtboy)
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To: Thatcherite
"I'm cool, I reckon he looks stupider than me to the lurkers."

Should we take a poll? ;-)

284 posted on 04/15/2005 9:50:46 AM PDT by b_sharp (Science adjusts theories to fit evidence, creationism distorts evidence to fit the Bible.)
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To: Modernman

Not to forget the all-important male nipples and his bellybutton (where mother God had her umbilical cord attached when he still was a fetus-God).


285 posted on 04/15/2005 9:58:11 AM PDT by anguish (while science catches up.... mysticism!)
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To: Modernman
So, is God male or female? Does He have two legs, two arms and genitalia?

You see, theres just some things that I don't care about. You wanna know what gods unit looks like? What an idiot.

286 posted on 04/15/2005 10:25:21 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Modernman
Science cannot, nor does it even attempt to, describe the supernatural.

Which is the precise reason why ID is not science. It attempts to describe the existence of the supernatural.

287 posted on 04/15/2005 10:32:59 AM PDT by narby
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To: Echo Talon
You see, theres just some things that I don't care about. You wanna know what gods unit looks like? What an idiot.

I thought you said we were created in God's image, but now you're telling me that you don't know.

288 posted on 04/15/2005 10:36:42 AM PDT by Modernman ("I'm in favor of limited government unless it limits what I want government to do."- dirtboy)
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To: Modernman

Hey, thats what the book says. Mines not to queston why... you know the rest.


289 posted on 04/15/2005 10:38:52 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Echo Talon

So, God has a penis?


290 posted on 04/15/2005 10:43:27 AM PDT by Modernman ("I'm in favor of limited government unless it limits what I want government to do."- dirtboy)
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To: PatrickHenry
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

Strange, I suddenly feel hungry for a banana.

291 posted on 04/15/2005 10:47:44 AM PDT by colorado tanker (The People Have Spoken)
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To: Thatcherite
I wonder how God did those things before He created a physical universe? Still, at least He didn't look like an ape, or anything disgusting like that.


The Divine Image!?

292 posted on 04/15/2005 11:10:11 AM PDT by balrog666 (A myth by any other name is still inane.)
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To: b_sharp
Should we take a poll? ;-)

So far I am winning 1-0. Hurrah! But everything may hang on which way Ohio jumps.

293 posted on 04/15/2005 11:39:55 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite
"So far I am winning 1-0. Hurrah! But everything may hang on which way Ohio jumps."

Do votes from Canada count? Send me a few pounds and I'll vote for you too.

294 posted on 04/15/2005 1:01:19 PM PDT by b_sharp (Science adjusts theories to fit evidence, creationism distorts evidence to fit the Bible.)
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To: Modernman
"So, God has a penis?"

Hung like a horse, with giant b**ls. How else would he plant his seed?

295 posted on 04/15/2005 1:03:22 PM PDT by b_sharp (Science adjusts theories to fit evidence, creationism distorts evidence to fit the Bible.)
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To: b_sharp

I think I see the signs that this thread is just about played out.


296 posted on 04/15/2005 3:07:06 PM PDT by PatrickHenry (<-- Click on my name. The List-O-Links for evolution threads is at my freeper homepage.)
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To: PatrickHenry
"I think I see the signs that this thread is just about played out"

Great, now I'll get the reputation of killing threads.

297 posted on 04/15/2005 5:38:38 PM PDT by b_sharp (Science adjusts theories to fit evidence, creationism distorts evidence to fit the Bible.)
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To: furball4paws
I stand corrected, but the prediction is usually pretty damn good, especially in bacteria (my area).

Oh, yeah, bacteria. No introns, no exons, no alternate splicing, none of that stuff that makes the study of eukaryotes so durned complicated. So, what kind of bacteria do you study? I take it you are a microbiologist?

298 posted on 04/15/2005 7:00:20 PM PDT by exDemMom (Now that I've finally accepted that I'm living a bad hair life, I'm more at peace with the world.)
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To: jennyp; VadeRetro

Vade, jennyp seems to have forgotton about Morton's demon. Can you assure her that I am in fact "demon possessed"?


299 posted on 04/15/2005 7:16:58 PM PDT by Ahban
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To: Ahban
Vade, jennyp seems to have forgotton about Morton's demon. Can you assure her that I am in fact "demon possessed"?
Oh, Morton's demon. Well, yeah. Of course you're afflicted with that one. OK, I apologize. You're not lying. :-)
300 posted on 04/15/2005 7:23:39 PM PDT by jennyp (WHAT I'M READING NOW: my post)
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