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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: PatrickHenry

Great post PH. Thanks for the ping.


201 posted on 04/14/2005 7:50:21 AM PDT by narby
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To: mc6809e; derheimwill
derheimwill>> What's that supposed to mean? I love it when bad logic is portrayed as science. Sure the scientists in question have identified the functions of gene sequences with great precision and skill but, to jump from there to the rest is simply rediculous.

mc6809e>> What?!?

It's hardly a ridiculous theory.

Here's an example of a ridiculous theory: the big sky-daddy is testing our faith by planting this genetic evidence.

This is a great example of why it is stupid for believers to interpret Genesis litterally. Evolution is supported by hard facts that can be examined and tested, while faith, by it's very definition, cannot.

When creationists attack evolution, they open themselves up to ridicule and derision. And when young believers enter college and are challeneged with the evidence of evolution that contradicts what they've been taught, some of them will abandon their faith entirely. Any believer who abandons their faith over this silly issue is a tragedy.

The only intellegent solution is for believers to accept that God is powerful enough to have created Evolution, and some, but not all, believers have misinterpreted Genesis to say otherwise.

Problem solved.

202 posted on 04/14/2005 8:04:16 AM PDT by narby
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To: balrog666
The universe-builds-a-bigger-idiot placemarker.

I must say, at least, I admire you for your self-admission. The fact that you blatantly admit it, reinforces its validity.

203 posted on 04/14/2005 8:08:23 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: Echo Talon
Well if faith in the bible is a cancer in conservatism count me infected I guess.

I don't think that faith in the Bible is any detriment to conservatisim.

But the rigid interpretation of Genesis that some, but not all, Christians hold that we call "creationism" certianly is a cancer on conservatisim. It damages our credibility, and distracts us (with fights over science classroom content) from working on political goals that are attainable, like proper Supreme Court judges and SS reform.

204 posted on 04/14/2005 8:12:34 AM PDT by narby
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To: AntiGuv

"Can not" <> "Do not"


205 posted on 04/14/2005 8:14:02 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: <1/1,000,000th%
This is the usual answer that comes from basic ID theory. It's no surprise that most folks don't have much use for it.

Dunno is infinitely better than your answer to the question appended to dunno.

206 posted on 04/14/2005 8:20:36 AM PDT by jwalsh07
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To: 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 ]

So then, if I get the drift of this correctly...
The Third human on earth DID NOT come from the first two...
Right.?.

207 posted on 04/14/2005 8:42:08 AM PDT by hosepipe (This Propaganda has been edited to include not a small amount of Hyperbole..)
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To: Echo Talon
You keep your faith in man and Scientology and I will keep mine in the Lord.

I don't think that word means what you think it means.

208 posted on 04/14/2005 9:30:09 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: Echo Talon
There are a great many Christians and Jews that would disagree with you.

It doesn't matter if they disagree with me or not, they disagree with the Bible.

Wow. Not only do you claim to be the final judge of who is and isn't Jewish or Christian, you also claim to be the final arbiter of what the Bible says.

You do know that pride is a sin, right?

209 posted on 04/14/2005 9:35:09 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: AntiGuv

...until you get to Adam: made from dust.


210 posted on 04/14/2005 9:44:53 AM PDT by derheimwill (Love is a person, not an emotion.)
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To: killermosquito
If we evolved from apes why are there still apes?

Because we share an ancestor with today's apes, but we didn't evolve from them.

211 posted on 04/14/2005 9:45:13 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: Echo Talon
What's to gain from believing that I evolved from an ape?

You gain an understanding of a certain part of the natural world.

The only thing this "science" does is confuse people about their faith.

You must have a pretty weak faith if you're afraid of a simple scientific theory.

Pretty idiotic to believe in nonsense, whose sole purpose is to undermine the church in the first place.

Hate to rain on your feelings of persecution, but the theory of evolution really has nothing to do with your religion.

212 posted on 04/14/2005 9:48:02 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: frgoff; AndrewC

Thank you both. The things I was taught wrong in school...


213 posted on 04/14/2005 9:50:50 AM PDT by Talking_Mouse (Indeed I tremble for my country when I reflect that God is just... Thomas Jefferson)
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To: Echo Talon
Does it say god created a sea creature that transformed into an ape that evolved into a human? i think not, I believe it says something like 'god created man.'

Genesis simply left out the unimportant details. The process God used to create man isn't in the Bible because it would have been lost on primitive bronze-agers. I imagine God knew that we would eventually be able to fill in the details.

The Bible doesn't deal with very much science. It's a moral guide, not a science textbook.

214 posted on 04/14/2005 9:52:26 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: Echo Talon
also strange that humans haven't reverted back... at least in a few births... How come they ALL evolved?

This question is so ignorant that it makes me feel sorry for you.

If you really believe that the theory of evolution calls for humans giving birth to chimps occasionally, there's no point in even discussing this with you.

215 posted on 04/14/2005 9:55:35 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: Cicero
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.

amazing complexity.

Nature is one fast typing monkey!

216 posted on 04/14/2005 9:56:22 AM PDT by bondserv (Alignment is critical! †)
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To: Echo Talon
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

So God intentionally created evidence pointing to evolution as an attempt to fool humans?

Doesn't sound like the Christian God I'm familiar with. More like Loki, the Norse god of mischief.

217 posted on 04/14/2005 10:03:01 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: AndrewC

It wasn't a quote..


218 posted on 04/14/2005 10:05:04 AM PDT by AntiGuv (™)
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To: Dimensio; Strategerist; Echo Talon
Let's allow the Bible to speak for itself:

From another post I made.

The creation of the world and the creation of man are connected repeatedly throughout scripture.

Isa 45:12 I have made the earth, and created man upon it: I, [even] my hands, have stretched out the heavens, and all their host have I commanded.

Zec 12:1 The burden of the word of the LORD for Israel, saith the LORD, which stretcheth forth the heavens, and layeth the foundation of the earth, and formeth the spirit of man within him.

Isa 42:5 Thus saith God the LORD, he that created the heavens, and stretched them out; he that spread forth the earth, and that which cometh out of it; he that giveth breath unto the people upon it, and spirit to them that walk therein:

Isa 45:18 For thus saith the LORD that created the heavens; God himself that formed the earth and made it; he hath established it, he created it not in vain, he formed it to be inhabited: I [am] the LORD; and [there is] none else.

Isa 40:21-22
Have ye not known? have ye not heard? hath it not been told you from the beginning? have ye not understood from the foundations of the earth?

Isa 64:4 For since the beginning of the world [men] have not heard, nor perceived by the ear, neither hath the eye seen, O God, beside thee, [what] he hath prepared for him that waiteth for him.

Again, more passages speaking about Adam being created:

Gen 2:7 And the LORD God formed man [of] the dust of the ground, and breathed into his nostrils the breath of life; and man became a living soul.

Gen 5:1 This [is] the book of the generations of Adam. In the day that God created man, in the likeness of God made he him;

Deu 4:32 For ask now of the days that are past, which were before thee, since the day that God created man upon the earth,

And the myth called Adam lived a specific number of years, then the myth died.

Gen 5:5 And all the days that Adam lived were nine hundred and thirty years: and he died.

It all ties together scripturally.

And no good study of beginnings can go without a passage written by the finger of God on the tablets of stone, which tends to override any scholars desire to reattribute it to the eating of a bad pickle.

Exd 20:8-11
8 Remember the sabbath day, to keep it holy.
9 Six days shalt thou labour, and do all thy work:
10 But the seventh day [is] the sabbath of the LORD thy God: [in it] thou shalt not do any work, thou, nor thy son, nor thy daughter, thy manservant, nor thy maidservant, nor thy cattle, nor thy stranger that [is] within thy gates:
11 For [in] six days the LORD made heaven and earth, the sea, and all that in them [is], and rested the seventh day: wherefore the LORD blessed the sabbath day, and hallowed it.

A direct correlation.

219 posted on 04/14/2005 10:16:34 AM PDT by bondserv (Alignment is critical! †)
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To: AntiGuv

I was just noting the potential conflict between a para 2 and para 3 in your green warbler example. The two varieties are the same species.


220 posted on 04/14/2005 10:22:28 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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