What would happen in a cell that had a mutation that inactivated the protein WASP?

Solutions

Expert Solution

- Mutation in the WAS protein gene which encodes a 502-amino acid protein, named WASP (expressed specifically in hematopoietic cells) causes Wiskott-Aldrich syndrome (WAS) which is an X-linked recessive immune deficiency disorder characterized by thrombocytopenia, eczema, recurrent infections, and increased risk of autoimmune disorders and malignancies. Mutation in WASP gene also causes X-linked thrombocytopenia (XLT) which is an allelic variant of WAS presents with a milder phenotype, usually limited to thrombocytopenia. The majority of mutations that causes WAS occurs in the WH1 domain of the protein.

- WASP is an actin polymerization regulator in hematopoietic cells with well-defined functional domains that are involved in cell signaling and cell locomotion, immune synapse formation, and apoptosis. WASP is also thought to play a pivotal role in actin cytoskeleton organization.

- The main function of WASP is that it binds actin monomers as well as the actin-related protein (ARP) 2/3 complex to catalyze branching of filamentous actin (F-actin) in hematopoietic cells. Hence mutations in WASP results in reduced actin polymerization, phagocytosis, filopodia formation, and chemotaxis.

gladiator answered 1 year ago

Next > < Previous

Related Solutions

Pick the correcty answer If a mutation that inactivated telomerase occurred in a cell (telomerase activity...

Pick the correcty answer If a mutation that inactivated telomerase occurred in a cell (telomerase activity in the cell = zero), what do you expect the outcome to be? The position of the centromere would shift at each replication cycle, eventually leading to mutations in the genetic information and cell death. The number of tandem repeats would increase with each replication cycle, eventually leading to a large unstable chromosome and cell death. The telomeres would shorten at each replication cycle,...

Fundamentals of Biology: What is the "purpose" of fermentation and what would happen to a cell...

Fundamentals of Biology: What is the "purpose" of fermentation and what would happen to a cell of there were no oxygen AND it cannot do fermentation? Who is the final electron acceptor and how does it it work?

Question 20 An example of a suppressor mutation would be A mutation that suppresses cell growth...

Question 20 An example of a suppressor mutation would be A mutation that suppresses cell growth An intergenic mutation that increases the activity of a protein performing a different function as the mutated protein An intragenic mutation that restores the inactive protein's structure An intergenic mutation that activates a transcription factor that increases the expression of a normal protein Question 23 The mechanism for reactive oxygen species to cause mutation is the reactive oxygen species stabilize different tautomeric forms of...

what would happen to the charge across the cell membrane outside cell potassium concentrations are greatly...

what would happen to the charge across the cell membrane outside cell potassium concentrations are greatly increased by KCL injection into the blood

846. What would happen to the amount of protein made per mRNA molecule is the enzyme...

846. What would happen to the amount of protein made per mRNA molecule is the enzyme Poly A Polymerase is defective? Why? 847. What would happen to the rate of TRANSCRIPTION if there was a frame shift mutation in the transcription unit? Why? 848. What would happen to TRANSLATION if there was a mutation such that a UGA codon was changed to UCA? Why? 849. What would happen to TRANSLATION if there was a nonsense mutation in the 5’ untranslated...

If a cell suddenly lost all of its ribosomes, what would happen to the metabolism of...

If a cell suddenly lost all of its ribosomes, what would happen to the metabolism of the cell? Why?

Imagine an E. coli cell that has a mutation that keeps catabolite activator protein (CAP) from...

Imagine an E. coli cell that has a mutation that keeps catabolite activator protein (CAP) from forming properly. What would happen to this cell? A. Glucose would accumulate, galactose would accumulate B. Galactose would accumulate, lactose would accumulate C. Galactose would accumulate, lactose concentration would decrease D. Lactose would accumulate, glucose concentration would decrease

Question