human genome project

[Deacon]

Interesting discovery from the Sanger Instutute [LINK]

Human DNA patterns show not only single letters variation but sentences, paragraphs, and even whole pages that can be missing or duplicated.

"Each one of us has a unique pattern of gains and losses of complete sections of DNA," said Dr Matthew Hurles, one of the projects leaders at the Wellcome Trust Sanger Institute, "and one of the real surprises of these results was just how much of our DNA varies in copy number."

"Many examples of diseases resulting from changes in copy number are emerging," commented Charles Lee, one of the projects leaders from Brigham and Womens Hospital and Harvard Medical School in Boston.

"Indeed, medical research will benefit enormously from this map, which provides new ways for identifying genes involved in common diseases."

The conclusions are dramatic: "I believe this paper will change forever the field of human genetics,"

Rob

 

[pinoybaptist]

I hope they discover how to replace the deleted stuff in our dna that has to do with problems like cancer, diabetes, obesity, and so on.

 

[Gold Dragon]

Interesting discovery from the Sanger Instutute [LINK]

Human DNA patterns show not only single letters variation but sentences, paragraphs, and even whole pages that can be missing or duplicated.

"Each one of us has a unique pattern of gains and losses of complete sections of DNA," said Dr Matthew Hurles, one of the projects leaders at the Wellcome Trust Sanger Institute, "and one of the real surprises of these results was just how much of our DNA varies in copy number."

"Many examples of diseases resulting from changes in copy number are emerging," commented Charles Lee, one of the projects leaders from Brigham and Womens Hospital and Harvard Medical School in Boston.

"Indeed, medical research will benefit enormously from this map, which provides new ways for identifying genes involved in common diseases."

The conclusions are dramatic: "I believe this paper will change forever the field of human genetics,"

Rob

Differences in gene copy number have been known for a long time in genetics.

What appears to be new is how extensive variations in gene copy number are in the human genome and how important a role that plays. In the past, it was often seen as simply extra copies that were like failsafes if one copy was damaged.

From reading this press release, I get the feeling that this Institute is overstating the importance of its research.

 

[Deacon]

I was never impressed with the evolutionary argument regarding "junk DNA".

At least here we have a recognition that there may be purpose in the duplication of information.

Rob

 

[The Galatian]

"Junk DNA" was always a slang term; I remember in college in 1968, hearing that some non-coding DNA had other functions, and of course, it had been long known that gene duplication may be useful to the organism, and is a major source of material for mutation and evolution. Duplicated genes, unless they are damaged by mutation, are not noncoding or "junk" DNA, of course.

I've yet to meet a molecular biologist who actually thinks it has no use.

 

[Gold Dragon]

I was never impressed with the evolutionary argument regarding "junk DNA".

At least here we have a recognition that there may be purpose in the duplication of information.

Rob

As Galatian mentioned, "Junk DNA" refers to non coding regions of the genome. The research in the link you reference actually has nothing to do with those regions of DNA. It is talking about copy numbers of genes which are coded regions of DNA.

And yes, as Galatian mentioned, "Junk DNA" has purpose and function which has been recognized for a long time in genetics. I agree that this slang term is really a misnomer.

Finally Galatian also is correct in that multiple gene copy numbers provide sites for mutation and evolution to happen.

I guess I'm just restating Galatian's post.