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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: laredo44; Echo Talon
In the end when your before the lord you can explain yourself.

It should surprise me when fundamentalists end up retreating to this implied threat of divine retribution for drawing conclusions from the physical evidence. But I've seen it so often now it doesn't any more. All the morality and logic of a Jack Chick tract.

It is significant that the purported interest in evidence and facts was only a sham.

161 posted on 04/14/2005 3:38:58 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Echo Talon
I dont care if you had a perfectly preserved "ape-man" i wouldn't believe evolution. I could explain it away as a genetic defect.

Darn it those paleontologists are so unlucky. All they ever find are weird mutants and genetic defectives. Where are all the "normals" in the fossil record?

162 posted on 04/14/2005 3:41:32 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Vaquero
... you know the fact that interests me the most...(not from this piece) is that Humans are genetically closer to chimps and bonobo's than any frog specie is to any other frog specie.

I didn't know that, but it would make sense. It's like the example of ring species. If the divergence is recent, the intermediate steps are still around -- and the evidence of evolution in such cases is overwhelming.

The farther in the past the divergence occurred (as with frog species, I assume), the likelier it is that many of the intermediate stages have gone extinct. Our line is a recent one, so our cousins are still here. But they're going ...

163 posted on 04/14/2005 3:52:25 AM PDT by PatrickHenry (<-- Click on my name. The List-O-Links for evolution threads is at my freeper homepage.)
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To: Thatcherite

we will see, we all will... again what is to gain from believing this commie nonsense?


164 posted on 04/14/2005 4:04:04 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Echo Talon

What commie nonsense is that, then?


165 posted on 04/14/2005 4:06:23 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: laredo44
As can you. Created in His image with a brain programmed to seek out explanations and you think it is appropriate to stick your head in the sand. Good luck when He asks, "What did you think of all that evidence I provided for evolution?" Your explanation may be found wanting.

What are you going to do when the lord says "are you questioning my authority"(/cartman voice)... then you get pummeled with a billy club. :D

166 posted on 04/14/2005 4:07:34 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Thatcherite
what are we talking about? Oh yea commies and atheists way of explaining away the bible...
167 posted on 04/14/2005 4:09:03 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Thatcherite

You're being trolled, big time. Don't let it get to you. Gotta know when to hold, know when to fold ...


168 posted on 04/14/2005 4:11:07 AM PDT by PatrickHenry (<-- Click on my name. The List-O-Links for evolution threads is at my freeper homepage.)
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To: Echo Talon

I wasn't talking about that. I was talking about the Theory of Evolution, which is accepted by a large majority of christians worldwide (assuming that most Catholics follow the Pope in this matter). What were you talking about?


169 posted on 04/14/2005 4:13:08 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: PatrickHenry
You're being trolled, big time. Don't let it get to you. Gotta know when to hold, know when to fold ...

I'm cool, I reckon he looks stupider than me to the lurkers.

170 posted on 04/14/2005 4:14:11 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite
I wasn't talking about that. I was talking about the Theory of Evolution, which is accepted by a large majority of christians worldwide (assuming that most Catholics follow the Pope in this matter). What were you talking about?

im not catholic, and the pope isnt infallable. He is a man. Men can be wrong just like the misguided fools feeding you this line of garbage. It is a Theory nothing more.

171 posted on 04/14/2005 4:22:28 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Thatcherite

My theory is the plants of the time(not extinct) caused genetic defects in the fossils they found... :D YAY maybe I can get naive like you to believe it. It shouldn't be to hard you believe old long past extinct species of apes were actually humans...


172 posted on 04/14/2005 4:25:40 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Thatcherite

Hmmmmm so let me see if I have this.....
Radiometric Dating is the Bestiality experimentation that made us what we are today......
Oh what tangled webs we weave.......


173 posted on 04/14/2005 4:27:00 AM PDT by DelaWhere
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To: Talking_Mouse
I had always been told that they were vestigial.

They've both been discovered to play an important role in the human immmune system. A quick google should give you the info.

174 posted on 04/14/2005 4:29:54 AM PDT by frgoff
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To: Echo Talon
"we will see, we all will... again what is to gain from believing this commie nonsense?" ............................................................evolution is evolution....communism is communism....apples do not equate to oranges....please elaborate how these equate. as someone often posts here. "Liberalism is a cancer on America and Creationism is a cancer on Conservatism"
175 posted on 04/14/2005 4:42:53 AM PDT by Vaquero ("There is nothing lower than the human race - except the french." (Mark Twain))
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To: Thatcherite
You're being trolled, big time. Don't let it get to you. Gotta know when to hold, know when to fold ...

"I'm cool, I reckon he looks stupider than me to the lurkers."

De-lurking briefly to say that you reckon correctly.

176 posted on 04/14/2005 4:51:10 AM PDT by Chiapet
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To: Vaquero

Well if faith in the bible is a cancer in conservatism count me infected I guess.


177 posted on 04/14/2005 4:53:43 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: PatrickHenry

This still fails to explain the existence of Michael Jackson.


178 posted on 04/14/2005 4:56:12 AM PDT by verity (A mindset is a terrible thing to waste.)
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To: Vaquero; All
Sorry, but im tired and can't keep you heathens entertained anymore... I have been up all night working on a project. My advise to you is... Run to church!!! Don't walk.. RUN TO CHURCH! :P
179 posted on 04/14/2005 4:56:31 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Echo Talon
"Well if faith in the bible is a cancer in conservatism count me infected I guess...and Sorry, but im tired and can't keep you heathens entertained anymore." You know faith in God does not preclude belief in evolution. they are not mutually exclusive. enjoy your rest friend....
180 posted on 04/14/2005 5:05:41 AM PDT by Vaquero ("There is nothing lower than the human race - except the french." (Mark Twain))
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