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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: Ichneumon

you have observed macroevolution? please share


121 posted on 04/14/2005 1:00:33 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: dread78645

No no no we clearly evolved from elephants... /sarcasm
122 posted on 04/14/2005 1:11:03 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Echo Talon
pretty strange that not one, chimp-human has ever been found...

You should find this page interesting. As you say anti-evolutionists maintain that no intermediates between humans and our ape ancestors have been found. They say that every fossil hominid can be easily classified as "human" or "not human". Curious then, that the anti-evolutionists differ on the classification of fossil hominids. How can this be when there is no such thing as an intermediate? The existence of such difficult-to-classify intermediates is a *prediction* of ToE (You know, that science that according to you isn't falsifiable ;) ) and the existence of these hard-to-classify fossils is a vindication of ToE.

Here is another set of predictions made by ToE. The best things that can be said about a scientific theory are that (a) It is in accordance with the known data (b) It has made successful predictions about previously unknown data (c) It has survived falsification attempts. ToE connects millions of data points, has made numerous predictions, and numerous potential falsifications have instead confirmed it.

As a specific example you might care to ponder how "evolutionists" managed to successfully predict that marsupial fossils would be found on Antarctica. That is a highly specific prediction. One of many, many, many. How did they know that? (think plate-tectonics) Science can explain its reasoning behind such predictions, but faith-based belief-systems do not make verifiable predictions.

Millions of repeatable observations have the potential to falsify common descent with modification. Every time we dig up a fossil we can make predictions about its morphology based on its depth in the geological column, and based on its geographical location. We can predict what radiometric dating will say about the fossil. Every time we gene-sequence a new species we might get results that falsified common descent, but this never happens.

If there was a designer that designer went to great pains to make the biological kingdom appear as if all organisms are descended from a great tree of life. Perhaps to fool scientists into disbelieving Genesis I/II and going to hell? Or perhaps Genesis is not literally true in the most simple-minded interpretation. Creation stories that made sense to bronze-age goat-herds don't make sense in the light of modern knowledge. If you want to accept the literal truth of the entire bible you are rejecting more than just a major branch of biology (the keystone of modern biology). You are rejecting physics (radiometric dating), astronomy (SN1987A), cosmology (Cosmic Microwave Background), paleontology (fossil record), archeology (timelines for other civilizations that deny the biblical account), geology (no evidence for global flood).

123 posted on 04/14/2005 1:14:10 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Ichneumon
All well and good, but Darwinism, at least, has been empirically proven, right?

Wrong. Sure, there's evidence that evolution takes place within a species—but the fossil record has not yielded evidence of one species becoming another, as Darwin confidently predicted. This lack of evidence has not gone unnoticed by sociologist Rodney Stark. Stark calls himself neither an evolutionist nor an advocate of Intelligent Design; instead, he says, he is merely a scholar pursuing the evidence where it leads. In For the Glory of God (Princeton University Press, 2003), Stark offers startling evidence that Darwinists have covered up mounting flaws in their theory. He concludes that the battle over evolution is hardly a case of "heroic" scientists fighting off the persecution of religious fanatics. Instead, from the start, evolution "has primarily been an attack on religion by militant atheists who wrap themselves in the mantle of science in an effort to refute all religious claims concerning a creator—an effort that has also often attempted to suppress all scientific criticisms of Darwin's work."

here

124 posted on 04/14/2005 1:16:43 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Thatcherite
The existence of such difficult-to-classify intermediates is a *prediction* of ToE

Doesn't mean anything, it means humans and apes coexisted at the same time that all.

125 posted on 04/14/2005 1:18:17 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Thatcherite

Throw all the big words that you dont understand away when addressing me, it neither intimidates or impresses me :D


126 posted on 04/14/2005 1:20:55 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Echo Talon
Throw all the big words that you dont understand away when addressing me, it neither intimidates or impresses me :D

What big words, sorry? Is there some part of my argument that you didn't understand. Point it out and I'll try to clarify it for you.

127 posted on 04/14/2005 1:25:07 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Echo Talon
"The existence of such difficult-to-classify intermediates is a *prediction* of ToE"

Doesn't mean anything, it means humans and apes coexisted at the same time that all.

Try again, and read the article more carefully. It indicates no such thing.

128 posted on 04/14/2005 1:27:17 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite

You cant PROVE that is a human. You have bones... how scientific is that? wild speculation at best. you know what happens when you start to assume things dont ya?


129 posted on 04/14/2005 1:30:08 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Thatcherite
its was a joke. har har.
Read this
130 posted on 04/14/2005 1:31:32 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Echo Talon

felonious placemarker


131 posted on 04/14/2005 1:34:33 AM PDT by AntiGuv (™)
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To: Echo Talon
You cant PROVE that is a human. You have bones... how scientific is that? wild speculation at best. you know what happens when you start to assume things dont ya?

You are still posting before you've read and understood the argument. Your point is not relevant to the point being made in the article. Please read the article again.

132 posted on 04/14/2005 1:36:07 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Echo Talon
. Sure, there's evidence that evolution takes place within a species—but the fossil record has not yielded evidence of one species becoming another, as Darwin confidently predicted. This lack of evidence has not gone unnoticed by sociologist Rodney Stark. Stark calls himself neither an evolutionist nor an advocate of Intelligent Design; instead, he says, he is merely a scholar pursuing the evidence where it leads. In For the Glory of God (Princeton University Press, 2003), Stark offers startling evidence that Darwinists have covered up mounting flaws in their theory. He concludes that the battle over evolution is hardly a case of "heroic" scientists fighting off the persecution of religious fanatics. Instead, from the start, evolution "has primarily been an attack on religion by militant atheists who wrap themselves in the mantle of science in an effort to refute all religious claims concerning a creator—an effort that has also often attempted to suppress all scientific criticisms of Darwin's work."

That's a mighty paranoid conspiracy theory you've got there. But it's just a fantasy, and it's false. I'm sure it brings you some comfort though.

Meanwhile, biologists continue to do actual science which overwhelmingly supports evolution, as they have for almost 150 years now. Deal with it.

Try reading more *science* sources and fewer creationist ones, if you want something approaching a realistic view of what evolutionary biology is all about. Trying to "learn" about evolution from creationist sources is almsot exactly like trying to "learn" about conservatism from Michael Moore movies, and for exactly the same reasons.

133 posted on 04/14/2005 1:37:51 AM PDT by Ichneumon
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To: Ichneumon
Trying to "learn" about evolution from creationist sources is almsot exactly like trying to "learn" about conservatism from Michael Moore movies, and for exactly the same reasons.

Excellent analogy.

134 posted on 04/14/2005 1:38:52 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite

As far as im conserned they could all be apes. we really dont know for sure now do we?


135 posted on 04/14/2005 1:40:12 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Ichneumon

well, where has one species turned into another?


136 posted on 04/14/2005 1:41:22 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Echo Talon

here in reality..


137 posted on 04/14/2005 1:47:20 AM PDT by AntiGuv (™)
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To: Echo Talon
As far as im conserned they could all be apes. we really dont know for sure now do we?

If ToE is not true we ought to be able to easily tell for sure. After all we can do it for all modern skulls. Why can't you (or to be more fair, a evolution-rejecting scientist skilled in the art, like the scientists in the article) tell? There's no such thing as an intermediate, right? Every modern skull we look at, we can tell if its human or not-human. Why can't we reliably do that for fossils? The fossil record overwhelmingly indicates gradual change over time, right back to the smallest and oldest fossils we can find from hundreds of millions of years ago.

138 posted on 04/14/2005 1:48:51 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite

how do you ToE isnt an APE that went extinct?


139 posted on 04/14/2005 1:49:49 AM PDT by Echo Talon (http://echotalon.blogspot.com)
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To: Echo Talon
how do you ToE isnt an APE that went extinct?

Huh? You lost me. Another attempt at humor maybe? You forgot to include the joke.

140 posted on 04/14/2005 1:52:46 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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