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16. März 2005
What Sex did to the X - and Why (Wellcome Trust)
A chromosome account of evolution and revolution
The human X chromosome is about sex and how it evolved. It also has a unique position in the history of genetics – and the genetics of history.
On Thursday 17 March 2005, an international team led by the Wellcome Trust Sanger Institute, Cambridge, UK publishes in Nature the most complete analysis of this remarkable chromosome. Other major contributions to the sequence came from groups at Baylor College of Medicine, Houston TX, USA, Institute for Molecular Biotechnology (IMB) Jena, Germany, Washington University Genome Sequencing Center, St Louis, MO, USA and Max-Planck-Institute for Molecular Genetics, Berlin, Germany. The landmark study shows how we got an X chromosome and how it has been preserved (while the Y chromosome has degenerated). It also identifies new genes involved in disease and provides a gold-standard platform for studies to understand, to diagnose and, it is hoped, to treat a huge range of human disease.
The human X chromosome has a different biology to all others. Whereas females have two X chromosomes, males have only one X chromosome and a Y chromosome, which is an eroded version of the X chromosome, containing only a few genes. The consequences are dramatic; any defects in genes on the X chromosome are often apparent in males because the Y chromosome does not carry corresponding genes to compensate. For mutations on the X chromosome, the diseases are, most often, diseases of males – and not of humankind.
More than 300 diseases have been mapped to the X chromosome – by far the highest proportion of any chromosome – including Duchenne Muscular Dystrophy (DMD) and haemophilia. The genome sequence has been used in the isolation of more than 40 genes that are involved in medical conditions, including cleft palate and blindness.
The human X chromosome is about sex and how it evolved. It also has a unique position in the history of genetics – and the genetics of history.
On Thursday 17 March 2005, an international team led by the Wellcome Trust Sanger Institute, Cambridge, UK publishes in Nature the most complete analysis of this remarkable chromosome. Other major contributions to the sequence came from groups at Baylor College of Medicine, Houston TX, USA, Institute for Molecular Biotechnology (IMB) Jena, Germany, Washington University Genome Sequencing Center, St Louis, MO, USA and Max-Planck-Institute for Molecular Genetics, Berlin, Germany. The landmark study shows how we got an X chromosome and how it has been preserved (while the Y chromosome has degenerated). It also identifies new genes involved in disease and provides a gold-standard platform for studies to understand, to diagnose and, it is hoped, to treat a huge range of human disease.
The human X chromosome has a different biology to all others. Whereas females have two X chromosomes, males have only one X chromosome and a Y chromosome, which is an eroded version of the X chromosome, containing only a few genes. The consequences are dramatic; any defects in genes on the X chromosome are often apparent in males because the Y chromosome does not carry corresponding genes to compensate. For mutations on the X chromosome, the diseases are, most often, diseases of males – and not of humankind.
More than 300 diseases have been mapped to the X chromosome – by far the highest proportion of any chromosome – including Duchenne Muscular Dystrophy (DMD) and haemophilia. The genome sequence has been used in the isolation of more than 40 genes that are involved in medical conditions, including cleft palate and blindness.
