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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: Thatcherite; AndrewC

Apologies x 2. I then sent my apology to myself.


341 posted on 05/03/2005 9:37:44 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite
Why don't you endorse the Biblical position then?

Sorry about the last response, your clarification was not posted when I answered.

Because "that" is not the Biblical position.

342 posted on 05/03/2005 9:39:17 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: AndrewC

That's OK the fault was my carelessness.

What view do you take for example of the Exodus 20 20:21 that say that if the death of a beaten slave is delayed by a day from the beating then no offence has occurred.

And what is your view on the stoning of "stubborn and rebellious" children?


343 posted on 05/03/2005 9:43:19 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite

There are, of course, our friends in the Middle East still operating by these rules.

They would argue that denying the absolute truth of any part of the scripture would make it all fall down like a house of cards.


344 posted on 05/03/2005 9:46:27 AM PDT by js1138 (e unum pluribus)
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To: AndrewC
Because "that" is not the Biblical position.

Interestingly that is not amongst your fellow Christian Ahban's responses. He appears to see those things as the Biblical position AFAICS in this thread. At the very least he has never unequivocally denied it (as you have).

345 posted on 05/03/2005 9:50:04 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite
And what is your view on the stoning of "stubborn and rebellious" children?

You twist the words of the Bible.

Deu 21:18 If a man have a stubborn and rebellious son, which will not obey the voice of his father, or the voice of his mother, and [that], when they have chastened him, will not hearken unto them:

Deu 21:19 Then shall his father and his mother lay hold on him, and bring him out unto the elders of his city, and unto the gate of his place;

Deu 21:20 And they shall say unto the elders of his city, This our son [is] stubborn and rebellious, he will not obey our voice; [he is] a glutton, and a drunkard.

You imply little kids, but what little kids are drunkards? And son is not children.

346 posted on 05/03/2005 9:54:46 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: Thatcherite; AndrewC

To avoid recapitulating everything and to understand where I am coming from you could read the posts between ahban and myself starting at #315.


347 posted on 05/03/2005 9:55:00 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: AndrewC

OK, so this is alright if the children are adults then? A parent should stone their rebellious and stubborn adult children?


348 posted on 05/03/2005 9:56:12 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite
He appears to see those things as the Biblical position AFAICS in this thread. At the very least he has never unequivocally denied it (as you have).

I'll let him speak for himself, but I put "that" in quotes for a reason.

349 posted on 05/03/2005 9:56:35 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: Thatcherite
A parent should stone their rebellious and stubborn adult children?

I don't do dances. Read. "son" <> "children". Timothy McVeigh was rebellious.

350 posted on 05/03/2005 9:58:56 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: AndrewC

What has Timothy McVeigh got to do with it? We are talking "stubborn and rebellious", not "mass murderer". To attempt to change the subject into the rights and wrongs of capital punishment for murder is dishonest and irrelevant.


351 posted on 05/03/2005 10:41:10 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: AndrewC
I don't do dances. Read. "son" <> "children".

What are you saying here? You must not stone girls for this offence of being "stubborn and rebellious"?

352 posted on 05/03/2005 10:47:33 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Modernman

Stop answering it. It's a stupid question that has been answered way too many times. It's a canard and a sham and the creationists know it. Don't give them the pleasure.


353 posted on 05/03/2005 11:04:45 AM PDT by jayef
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To: Thatcherite
You must not stone girls for this offence of being "stubborn and rebellious"?

I'm not saying anything here. The Bible says "ben" or "son" as translated.

354 posted on 05/03/2005 11:13:22 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: Thatcherite

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


355 posted on 05/03/2005 11:18:29 AM PDT by jayef
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To: AndrewC
I'm not saying anything here.

Why did you post then? What was the purpose of that sentence?

356 posted on 05/03/2005 11:21:23 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: Thatcherite
What has Timothy McVeigh got to do with it? We are talking "stubborn and rebellious",

Because rebellious is not a minor offense. And if you like to build strawmen, go ahead, but I will not participate. The illustration was to show that "rebellion" was not a minor offense.

357 posted on 05/03/2005 11:23:58 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: Thatcherite
What was the purpose of that sentence?

Did you see the word "girls" in my answer?

358 posted on 05/03/2005 11:25:51 AM PDT by AndrewC (Darwinian logic -- It is just-so if it is just-so)
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To: AndrewC

So you do accept that parents can execute their children by stoning for being "stubborn and rebellious", as long as the children are not small kids (and possibly not if they are female?). Naively I thought your unequivocal "no" was to this question. You see I mistakenly saw rebelliousness as a minor offence, not realising that you would equate it with mass murder as practiced by McVeigh. My error. Frankly, I'm astonished.


359 posted on 05/03/2005 11:40:36 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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To: AndrewC
Did you see the word "girls" in my answer?

No but you appeared to be stressing the word "son" rather than "children" so I thought that perhaps you were excluding daughters from the punishment.

360 posted on 05/03/2005 11:41:52 AM PDT by Thatcherite (Conservative and Biblical Literalist are not synonymous)
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