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PAX3 gene history

PAX3 gene history. The paired box homeotic gene 3, or PAX3 gene encodes a DNA binding transcription factor that is expressed during embryonic development. In 1951, mutations of this gene were found to be linked to Waardenburg Syndrome type I. This was done by Petrus J. Waardenburg.

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PAX3 gene history

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  1. PAX3 gene history The paired box homeotic gene 3, or PAX3 gene encodes a DNA binding transcription factor that is expressed during embryonic development. In 1951, mutations of this gene were found to be linked to Waardenburg Syndrome type I. This was done by Petrus J. Waardenburg. Type II was discovered in 1971 by Arias, and type III was discovered in 1983 by Klein, who renamed this type Klein-Waardenburg syndrome. It is an autosomal dominant disorder characterized by sensorineural hearing loss, dystophia canthorum, and pigmentory abnormalities. Jeremy Kohansimeh

  2. Experimental Strategy PCR amplification was used in the homologous mouse gene to clone the intron between exons 2 and 3 of the PAX3 gene. This intron was then used as a probe to determine the genes chromosomal location, using DNA from somatic cell hybrids on a Southern blot. Utilizing this strategy the PAX3 gene was found to be located at 2q35. Conventional methods were used to obtain the DNA sequence . Jeremy Kohansimeh

  3. Gene Structure The human PAX3 gene is comprised of 8 exons and 7 introns. The wild type strain contains paired box domains; located on the 2nd, 3rd and 4th exons, an octapeptide motif on the 4th exon, and homeobox domains; located on the 5th and 6th exons. Jeremy Kohansimeh

  4. Protein Structure The PAX3 protein is comprised of extended, random-coil, beta-turn, and alpha-helix regions. Mutations in the amino acids of this protein can cause varying secondary structures. PAX3 is a transcription factor that regulates the expression of other genes by binding to DNA. Jeremy Kohansimeh

  5. PAX3 Mutational Analysis Mutations in the PAX3 gene include amino acid substitutions, premature termination codons, small in-frame or out-of-frame deletions/ insertions, and large segment chromosomal abnormalities. The mutant genotype has no correlation with the phenotypic expression of the syndrome. Jeremy Kohansimeh

  6. Works Consulted • Baldwin, Clinton T., Christopher F. Hoth, Roberto A. Macina, and Aubrey Milunksky. “Mutations in PAX3 • that cause Waardenburg syndrome type I: ten new mutations and a review of the literature.” • American Journal of Medical Genetics 58 (1995): 115-122 • Lalwani, Anil K., Anand N. Mhatre, Theresa B. San Augustin, and Edward R. Wilcox. “Genotype-phenotype • correlations in type I Waardenburg syndrome.” Laryngoscope 106 (1996): 895-903 • Macina, Roberto A., Frederic G. Barr, Naomi Galili, and Harold C. Riethman. “Genomic organization of the • human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar • rhabdomyosarcome.” Genomics 26 (1995): 1-8 • Read, Andrew P., and Valerie E. Newton. “Waardenburg syndrome.” Journal of Medical Genetics 34 (1997) • 656-665 • Tassabehji, M., V.E. Newton, K.Leverton, K. Turnbull, E. Seemanova, J. Kunze, K. Sperling, T. Strachan and • A.P. Reed. “PAX3 gene structure and mutations: close analogies between Waardenburg • syndrome and the Splotch mouse.” Human Molecular Genetics 3 (1994): 1069-1074 • Wilcox, Edward R., Marcelo N. Rivolta, Barbara Ploplis, Stephen B. Potterfand Jorgen Fex. “The PAX3 • gene is mapped to human chromosome2 together with a highly informative CA dinucleotide • repeat.” Human Molecular Genetics1 (1992): 215 Jeremy Kohansimeh

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