pammiejoe6

Last chromosome in human genome sequenced By Patricia Reaney
Wed May 17, 1:17 PM ET Reuters



Scientists have reached a landmark point in one of the world's most important scientific projects by sequencing the last chromosome in the Human Genome, the so-called "book of life."

Chromosome 1 contains nearly twice as many genes as the average chromosome and makes up eight percent of the human genetic code.

It is packed with 3,141 genes and linked to 350 illnesses including cancer, Alzheimer's and Parkinson's disease.

"This achievement effectively closes the book on an important volume of the Human Genome Project," said Dr Simon Gregory who headed the sequencing project at the Sanger Institute in England.

The project was started in 1990 to identify the genes and DNA sequences that provide a blueprint for human beings.

Chromosome 1 is the biggest and contains, per chromosome, the greatest number of genes.

"Therefore it is the region of the genome to which the greatest number of diseases have been localized," added Gregory, from Duke University in the United States.

The sequence of chromosome 1, which is published online by the journal Nature, took a team of 150 British and American scientists 10 years to complete.

Researchers around the world will be able to mine the data to improve diagnostics and treatments for cancers, autism, mental disorders and other illnesses.

FINAL CHAPTER

Chromosomes, which are found in the nucleus of a cell, are thread-like structures that contain genes which determine the characteristics of an individual.

The human genome has an estimated 20,000 to 25,000 genes. The sequencing of chromosome 1 has led to the identification of more than 1,000 new genes.

"We are moving into the next phase which will be working out what the genes do and how they interact," Gregory told Reuters.

The genetic map of chromosome 1 has already been used to identify a gene for a common form of cleft lip and palate. It will also improve understanding of what processes lead to genetic diversity in populations, according to Gregory.

Each chromosome is made up of a molecule of DNA in the shape of a double helix which is composed of four chemical bases represented by the letters A (adenine), T (thymine), G (guanine) and C (cytosine). The arrangement, or sequence, of the letters determines the cell's genetic code.

The scientists also identified 4,500 new SNPs -- single nucleotide polymorphisms -- which are the variations in human DNA that make people unique.

SNPs contain clues about why some people are susceptible to diseases like cancer or malaria, the best way to diagnose and treat them and how they will respond to drugs

skelooth

I hope this means they will find a cure for pizza soon.

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The Booger

Oh great. Time to rewrite the medical books......AGAIN!

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warriors

yes i'm coming closer and closer to being able to become hulk like :evil5:

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powerman2000

:rofl:

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Pj-Macx

Great maybe they will be able to find a cure for cancer...

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pammiejoe6

GOD I HOPE SO PJ!

madman911

Not to play "mr. scientist", but I like to give people this little speech (I've pretty much got it memorized), when non-science types bring up the elusive "cure" for cancer. I just want people to know what we cancer researchers are up against.

There will never be "a cure" for cancer. There are about 60 different types of cancer. The cells within a single cancerous tumor are not all the same; the genetic instability of cancer results in a myriad different subpopulations that all differ in their specific genetic mutations. This underlies one of the major problems with cancer therapy: Even when you find a therapy that successfully shrinks a tumor and the therapy has, therefore, killed many of the tumor cells, the tumor eventually stops responding to treatment and starts to grow again due to the presence of tumor cells called "escape variants". These escape variants have a mutation in their genes that renders them immune to the therapy. Cancer patients are always treated with what is called combination therapy for this reason. In combination therapy, at least two drugs, with different mechanisms of action, are administerered to the patient, to hopefully kill more cancer cells. If the cells are immune to one of the drugs, hopefully they are susceptible to killing by the other. This is not always the case, the cancer may not respond to one or even both of the drugs, and cancer can even become what is called "multi-drug resistant". In this situation, the tumor cells actually acquire the ability to pump the anti-cancer drugs out of themselves, before the drug reaches a concentration that can kill the cancer. That is hard to imagine, that a cancer cell could be so evil as to find a way to pump drugs out of itself in order to live. Cancer is all about survival of the fittest, those cells that gain a genetic advantage over their neighbors will survive and thrive; it is microevolution. Cancer cells use the same basic biochemical pathways that our healthy cells use for survival, so trying to find drugs that can cripple cancer cells while sparing normal tissue is a huge challenge. Cancer therapies will improve rapidly in the next 20 years, but we are a long ways off from the day when having cancer will be like having your tonsils removed, even with the genome sequenced.

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Pj-Macx

Not to sound hateful or anything but I didnt need to hear all of that.. especially since my 11 year old daughter is fighting cancer right now.. my mind knows all of that.. but my heart still hopes there is a chance for a cure...

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Ikaika

I think a more realistic expectation of this research might be that it could help tell scientists to what degree genes are linked to disease phenotypes, and then they will focus on the most strongly linked ones before moving on to more complicated linkages.

The actual sequencing of the genome has been done for some time now...since 2002 I believe. A lot of the work was done at the Washington University in St. Louis Genome Sequencing Center so there were a lot of talks given by GSC staff at WUStL. What they've been doing for the past several years is called annotation, where they compare the sequence data they've gathered to sequence data in other organisms that have been completely annotated like C. elegans, D. melanogaster, and chimpanzee to name a few. When they find some similarity they then have to look at how good the match is, and whether what they've found is an actual gene or what is called a pseudogene. These differ from true genes in that they usually contain premature stop codons which result in a truncated transcript(if it even gets transcribed at all) and a non-functional gene product.

The next step, as Pammie said, is to figure out what all those genes do...have fun with that...:crazy1:

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AYung

Nice article, a little review for my Bio 30 exam in June.

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BigZeke

Damn, good post. Didn't know a lot of that. They seem more similar than I thought to retroviruses such as HIV/AIDS in the effect that they find ways to ward off things that are trying to kill them, be it leukocytes or drugs.

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madman911

Cancer and viruses such as HIV and influenza (the flu) do have striking similarities in their ability to evade treatment. When you have high rates of random genetic mutation in a huge population of cells or virus particles, coupled with a selective pressure such as drug, you will inadvertently select for those cells or virus particles that have aquired the ability to survive the treatment.

With cancer, the genetic instability of the chromosomes and loss of DNA damage checkpoints and repair mechanisms result in the high rate of mutation. In retroviruses such as HIV and influenza, the mutation rate is high because the reverse transcriptase that copies the viral RNA genome into DNA lacks a proof-reading domain. Therefore lots of point mutations are introduced, resulting in what is known as antigenic drift. Antigenic drift underlies the need for a different flu vaccine every year, based on the specific strain of the flu that is predicted to predominate. Antigenic shift is an even more rapid and drastic mutational event where two different strains of a virus infect an animal simultaneously and switch whole segments of their genomes (the influenza genome consists of 8 RNA segments), which renders all vaccines and the aquired immunity within a population ineffective at stopping the virus. This happens every 50 to 60 years with the flu virus and is associated with especially nasty flu seasons.

When it comes to this stuff... I can just ramble on and on, better not to get me started. :crazy1:

Proving that I can ramble, I just want to add this: The same general principle applies to the growing concern about antibiotic resistant bacteria. Through the overuse of antibiotics (unfortunately, most docs will dispense antibiotics like they are tic-tacs) there has been an inadvertent selection for bacterial strains that have aquired genes that allow them to survive antibiotic exposure.

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pammiejoe6

it's all really intimidating to me....i fear an immunity-resistant strain will infect one of my loved ones eventually...scares the daylights out of me...


mad i just want to say publicly how much i appreciate all you are doing in the battle against cancer....if only so many would follow in your footsteps! Thanks for the knowledge and effort!

it CANNOT be easy and i find myself wondering how you got sucked into the whole cancer research thing? did you lose someone close to you? or were you inspired as a child? please share if you are willing!

BigZeke

I have often wondered why people worry about such things. Death is an inescapable reality, it should not be feared or abhorred. It matters not when in your lifetime you die, but what you do while you're alive. People worry so much about dying that they forget to live.

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