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Full-Text Articles in Medicine and Health Sciences
The Cradle Of The Deltaf508 Mutation, Danish Saleheen, Philippe M Frossard
The Cradle Of The Deltaf508 Mutation, Danish Saleheen, Philippe M Frossard
Department of Biological & Biomedical Sciences
Cystic fibrosis (CF) is the most common autosomal recessive disorder caused due to mutation/s in the CFTR gene. The most common mutation in CFTR worldwide is deltaF508 and cystic fibrosis genetic analysis consortium revealed that this mutation is responsible for approximately 66% of all CF chromosomes in the world. Studies looking at the DNA polymorphic haplotypes created by CF linked markers suggest that deltaF508 has a single origin as this mutation has been found associated exclusively with one marker haplotype. Despite a high prevalence of this mutation in CF patients in northern parts of Europe, findings suggest that this mutation …
Ponticulin Plays A Role In The Positional Stabilization Of Pseudopods, D. C. Shutt, D. Wessels, K. Wagenknecht, A. Chandrasekhar, Anne L. Hitt, Elizabeth J. Luna, D. R. Soll
Ponticulin Plays A Role In The Positional Stabilization Of Pseudopods, D. C. Shutt, D. Wessels, K. Wagenknecht, A. Chandrasekhar, Anne L. Hitt, Elizabeth J. Luna, D. R. Soll
Elizabeth J. Luna
Ponticulin is a 17-kD glycoprotein that represents a major high affinity link between the plasma membrane and the cortical actin network of Dictyostelium. To assess the role of ponticulin in pseudopod extension and retraction, the motile behavior of two independently generated mutants lacking ponticulin was analyzed using computer-assisted two- and three-dimensional motion analysis systems. More than half of the lateral pseudopods formed off the substratum by ponticulin-minus cells slipped relative to the substratum during extension and retraction. In contrast, all pseudopods formed off the substratum by wild-type cells were positionally fixed in relation to the substratum. Ponticulin-minus cells also formed …