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Chromosome 4 and the Human Body

written by: Leigh A. Zaykoski•edited by: Leigh A. Zaykoski•updated: 12/4/2008

Medical science is heavily impacted by chromosome 4 and the other human chromosomes. Find out how.

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    As we continue this series on the human chromosomes and their genetic materials, we'll explore the contents of chromosome 4. You saw that chromosome 1, chromosome 2, and chromosome 3 all had many implications for human medical science. You'll find that chromosome 4 is no different in how important it is to the overall functional integrity of the human body.

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    Chromosome 4 Basic Information

    Humans with normal genetic materials have two copies of chromosome 4, which has nearly 200 million base pairs. Approximately six percent of the DNA in the human body cells is represented by chromsome 4. While the exact number of genes located on chromosome 4 is not available, a scientific estimate places the number at somewhere between seven hundred and just over one thousand genes. Chromosome 4 contains many genes that are responsible for the control of important body processes.

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    Chromosome 4 Genes

    Chromosome 4 contains a number of genes that control what happens in the human body. When these genes are defective, medical conditions and diseases can result. FGFR3 is a gene that is responsible for regulating fibroblast growth receptor factor 3. When this gene is defective, it can be a factor in the development of bladder cancer, dwarfism, and seborrheic keratosis. The Huntingtin gene is responsible for regulating the huntingtin protein, which is involved in the signaling and transport of nerve cells. Damage to this gene can result in the development of Huntingon's Disease. PKD2 is the gene that assists with the development of the renal tubes and also has some control over calcium homeostasis. When the gene is defective, polycystic kidney disease may develop. Other genes located on chromosome 4 include CXCL1, SNCA, WFS1, QDPR, and KDR.

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    Chromosome 4 Diseases

    As seen when studying the other human chromosomes, defects of the genes located on chromosome 4 can lead to the development of chronic medical conditions. Several serious conditions are related to defects of chromosome 4 genes including Hemophilia C, Parkinsons Disease, and specific types of deafness.

    Now that you know more about the first four chromosomes in the human body, it's time to move on to chromosome 5. In our next article in this series, you'll learn about how chromosome 5 impacts the health of humans.

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    Chromosome 4 Reference Materials

    National Library of Medicine. Genetics Home Reference. "Chromosome 4." Retrieved December 4, 2008 from National Library of Medicine Genetics Home Reference.

    U.S. Department of Energy Office of Science. Human Chromosome Launchpad. "Human Chromosome 4." Retrieved December 4, 2008 from National Library of Medicine Genetics Home Reference.