Identifying the sequence of chromosome 1 required 10 years of work by a team of 150 British and American scientists It contains 3,141 genes and is associated with 350 diseases, including cancer, Alzheimer's and Parkinson's disease * Chromosome 1 includes over a thousand new genes
Avi Blizovsky and the news agencies
The sequence of the last chromosome in the human genome was published this week, marking the completion of the Human Genome Project. Chromosome number 1 is the largest chromosome and it contains about eight percent of all our genes - 3,141 genes. This chromosome is involved in over 350 diseases including several types of cancer, Parkinson's and Alzheimer's.
The article summarizing the discovery of the genetic sequence of chromosome #1 was published in the journal Nature.
The Human Genome Project is an international research effort launched with the aim of deciphering the sequence of all the genes in the human genome - sometimes described as the "book of life". A draft of the human genome was published in 2001. Two years later a more accurate edition was presented, although it too had gaps. However, an analysis of the 22 normal chromosomes plus X and Y chromosomes provides a "golden standard" for the gene content of the human genome and the publication of chromosome number 1 completes the series.
In order to complete the sequence of chromosome 1, it took 10 years of work by a team of 150 British and American scientists. Now, researchers from all over the world will be able to 'dig' into the data to improve the diagnosis and treatments of cancer, autism, mental disorders and other diseases.
"This achievement effectively 'closes' the book on the important value of the human genome project, said Dr. Simon Gregory, from Duke University in the USA, who headed the project at the Sanger Institute in England. A project started in 1990 and its goal was to identify the sequence of genes and DNA which provides the fingerprint of humanity. "Currently, the publication of the largest and last chromosome sequence completes the story of the Human Genome Project and marks the beginning of a growing wave of biologists and medical researchers who will be able to search for the causes of diseases in the established database, Gregory said.
Chromosome 1 sequencing required an international team ten years to complete. They found that it contains 3,141 genes, over a thousand of which were new to science. "Deciphering the role of these genes and how they communicate with each other will be in the next volume that will continue the first volume of the human genome," Gregory told the BBC.
This chromosome is already linked to many diseases. It is linked to cancer, high cholesterol, Parkinson's and Alzheimer's. The hope is that the sequencing will allow researchers to find new diagnoses and treatments.
Editing the sequence - a 10-year project
Chromosome 1 is the largest and contains, per chromosome, the largest number of genes. Therefore, this is the region of the genome where the largest number of diseases are located.
Chromosomes, found in the cell nucleus, are thread-like structures that contain genes that determine a person's characteristics. There are approximately 20,000 to 25,000 genes in the human genome, and the sequencing of chromosome 1 resulted in the identification of more than 1,000 new genes. The next step will be to find out what the genes' role is and how they work.
Looking for clues to disease susceptibility
The genetic map of chromosome 1 was already used to identify a gene for cleft lip and cleft palate. It will also improve the understanding of the process leading to genetic diversity in the population.
Each chromosome is made of a DNA molecule in the form of a helical body, consisting of four chemicals represented by the letters A (adenine), T (thymine), G (guanine), and C (cytosine). The arrangement, or sequence, of the letters Determines the genetic code of the cell.
The scientists also identified 4,500 SNP's - branches - sites in the DNA where the base sequence is different in different individuals, thus distinguishing one person from another.
The SNP's contain clues about why certain people are susceptible to diseases like cancer or malaria, about the best way to diagnose and treat them and how they will respond to drugs.
"Chromosome 1 contains amazing stories of chromosomal biology, of our evolution, and of our health, and its appearance inspires us to play a part in a program that will enable us to understand the fundamental nature of human biology," said Gregory. The chromosome 1 sequence, along with all other sequences, is freely available to researchers.
The human genome scientist
For news at the BBC
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