Mutation Analysis of the L1Cell Adhesion Molecule Gene.The L1Cell Adhesion Molecule (L1CAM) gene codes for a glycoprotein with six immunoglobulin (lg)-like domains and five fibronectin-like domains in the extracellular portion (Kohl et al., 1992). The L1CAM is typically expressed on neural cells and plays an important role in neurogenesis neurogenesis /neu·ro·gen·e·sis/ (-jen´e-sis) the development of nervous tissue. neu·ro·gen·e·sis n. Formation of nervous tissue. neurogenesis the development of nervous tissue. , nerve growth, and neuron-to-neuron adhesion. L1CAM mutations can lead to neurological syndromes. The patient known as BBD was seen to have hydrocephalus hydrocephalus (hī'drəsĕf`ələs), also known as water on the brain, developmental (congenital) or acquired condition in which there is an abnormal accumulation of body fluids within the skull. , a clinical sign of an L1CAM mutation. BBD's DNA was sequenced and compared to a health control for mutations. BBD's mutation was shown to be a thymine thymine (thī`mēn), organic base of the pyrimidine family. Thymine was the first pyrimidine to be purified from a natural source, having been isolated from calf thymus and beef spleen in 1893–4. mutated from a cytosine cytosine (sī`tōsēn'), organic base of the pyrimidine family. It was isolated from the nucleic acid of calf thymus tissue in 1894. at the 2278 nucleotide location in the cDNA sequence causing a change from arginine arginine (är`jənĭn), organic compound, one of the 20 amino acids commonly found in animal proteins. Only the l-stereoisomer participates in the biosynthesis of proteins. to a stop codon at position 760 in the amino acid sequence. This created a stop codon, which is commonly referred to as a nonsense mutation. The predicted outcome of the mutation is a complete loss of L1CAM at the neural cell surface. Paige De Benedittis South Carolina Governor's School for Science and Mathematics |
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