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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: jayef
I'm amazed that intelligent people spend so much time responding to the ineducable.

I do it because I learn so much doing it. I'm not an expert on any of this stuff, just someone with an engineering college education. Learning things is fun and my biggest reason for participating here in the crevo debates.

Once in a while someone acknowledges in public that they learnt something from me and that they're going to adjust their views a little. That gives a real buzz.

I get private mail from lurkers about once a month telling me to keep up the good work. That also gives a real buzz.

In that particular example (that you originally replied to) I think the OP did learn something that he didn't expect. A seed has been planted that may or may not grow.

381 posted on 05/04/2005 2:50:09 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: AntiGuv
Speaking if interesting genetic sequences:
Genesis 4:17
382 posted on 05/04/2005 3:12:30 AM PDT by Pipeline (The lessons can be harsh. All are repeated until learned.)
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To: Thatcherite
You say "NO" in response to what you characterize as as strawman interpretation of those verses on my part.

Interpretation.... that's the clue that you are building a strawman. Now, go pound

And, I did not butt into your discussion. You ended it remember. I have demonstrated your disingenuous "discussion" of the Bible. And the discussion proceeded on, because you chose to keep asking questions that I answered not to your liking. I told you when you responded where to go if you sincerely wanted answers. You don't. So I also think you are hilarious.

383 posted on 05/04/2005 7:38:04 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: AndrewC
Interpretation.... that's the clue that you are building a strawman.

Doubtless that Delphic utterance meant something to you.

The problem isn't that you answer questions "not to my liking". It is that your answers are evasions and irrelevancies and non-answers. I am no closer to understanding how you interpret those verses than I was when we began, because you keep dragging in stuff like McVeigh (definitely irrelevant) and "sons" vs "children" (relevance not demonstrated or explained) rather than what how you think Christians who believe that the Bible is the inspired word of God should obey those verses.

384 posted on 05/04/2005 7:57:42 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite
It is that your answers are evasions and irrelevancies and non-answers

No is evasive? You are delusional. And you don't understand English. Go pound sand.

385 posted on 05/04/2005 8:03:48 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: AndrewC
No is evasive? You are delusional. And you don't understand English. Go pound sand.

"No" was your answer to what you characterised as my strawman interpretation of those verses. What you have been evasive about is how YOU interpret those verses.

386 posted on 05/04/2005 8:11:20 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite
What you have been evasive about is how YOU interpret those verses.

That is due to the fact I told you I don't answer your strawmen and the fact that continually I have told you to ask your question on the religion forum. I told you I will not participate in your fishing expedition for something that you can "chew" on. If you sincerely sought an answer you would go the the religion forum. Instead you prove your inane and disingenuous proclivity to misunderstand plain English. Go pound sand.

387 posted on 05/04/2005 8:16:19 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: AndrewC

I give in. I can see that you are never going to tell me how you interpret those verses.


388 posted on 05/04/2005 8:18:57 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite
I give in. I can see that you are never going to tell me how you interpret those verses.

You finally got a clue. But you never asked the question in that form, instead you loaded the question and continually twisted the words. I saw your tendency from the beginning and that is the reason I answered that way. So go ask the unloaded question on the religion forum. I'm sure you'll get an answer, but at this point not from me due to your proclivities.

389 posted on 05/04/2005 8:23:29 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: AndrewC
But you never asked the question in that form.

False witness. Read #365 again. I asked you right away to explain your position.

390 posted on 05/04/2005 8:26:41 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite; AndrewC
Actually not right away, overstating my case, but after you'd raised the bewildering McVeigh and "sons" vs "children" issues. Ages ago, anyway, not "never".
391 posted on 05/04/2005 8:33:24 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite

I have a simple interpretation of difficult Bible verses. I think people at any given time do their best to understand existence and understand God. the understanding changes with time because cultures evolve, and people are able to see things were formerly hidden to them. This does not imply that our current understanding is perfect.

I think it requires an enormous ability to compartmentalize to think that the words of the Old testament represent the absolute and unchanging word of God. We can see the worldview of the Old Testament patriarchs alive and flourishing in the Middle East today.


392 posted on 05/04/2005 8:34:55 AM PDT by js1138 (e unum pluribus)
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To: Thatcherite
Actually not right away, overstating my case, but after you'd raised the bewildering McVeigh and "sons" vs "children" issues. Ages ago, anyway, not "never".

Go pound sand.

393 posted on 05/04/2005 8:43:14 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: js1138; AndrewC
I think it requires an enormous ability to compartmentalize to think that the words of the Old testament represent the absolute and unchanging word of God.

Now there is a view I can understand and identify with. I can understand a religion whose followers feel that way. I think from his answers that Ahban doesn't agree with js1138 and takes a much sterner literal view, at least in theory though he seemed hazy on how it would work in practice. AndrewC didn't give an answer, so I have no idea if that is how he feels or not. For all I know he agrees with js1138, in which case I would have little argument with him (on this issue at least ;) ). One problem with asking the question in the religion forum is that I'm pretty that from 10 different Christians I'll get 10 different answers. That has been my experience when I've got into debates about Christianity and morality on the crevo threads.

394 posted on 05/04/2005 8:43:51 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite

Go pound sand.


395 posted on 05/04/2005 8:46:37 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: Thatcherite

It is interesting that asking hard questions about gets a hostile response. No soft answers turning away wrath here.

Interestingly, I was asked by AC to describe my religious beliefs on this forum, and I did, even though it makes me uncomfortable. I'm obviously not a fundamentalist, and I have no preconceptions whatever about an afterlife. I'm not clever enough to understand the mind of God.

I just do my best to get through life. I was taught as a Boy Scout that you should leave your campsite cleaner than you found it. That's my understanding of morality.


396 posted on 05/04/2005 8:57:06 AM PDT by js1138 (e unum pluribus)
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To: js1138

I believe in the "How would the world be if everyone behaved the way I do?" principal.

Of course I don't always live up to it. Starting the conversation with AC with a (slightly) loaded version of my understanding of those Leviticus verses wasn't helpful to debate. But I tried hard thereafter. Didn't get me anywhere though :(

The way I see it those verses are talking about teenagers who have gone off the rails. It specifies the parents as those who request the stoning, so the implication is that of children who have not reached their majority. People lived shorter and married earlier in those days so I guess we are talking about 12-14 year-olds. From my understanding of ancient mores it is reasonable to imagine early teens getting drunk.

Interesting that it uses the word "sons" rather than children, the implication of which I missed initially. Two possibilities spring to mind:

a. It is inconceivable in that society that daughters could misbehave in such a way.
b. Girls were property rather than citizens upon whom any punishment could be visited at the whim of their parents, whereas boys had rights of judgement from the town elders.

Both of those things are factors. One way of seeing that law is that it probably codified that the parents had to get permission from the town elders. They couldn't just execute their son on a whim. So that way it could be seen as protection for rebellious youth that hadn't existed previously even though now we would see it as impossibly draconian.


397 posted on 05/04/2005 9:22:16 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite

You are talking about a culture derived from nomads who gradually settled into cities, or conqured them. Life is pretty harsh, and you kill anyone who threatens the survival of the tribe.

My problem is that the bible is a history of moral relativism and cultural evolution, but is cited as if it presented a seamless morality.

As I said, that requires some hi test compartmentalization.


398 posted on 05/04/2005 9:29:15 AM PDT by js1138 (e unum pluribus)
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