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#Question id: 1251

 Following statements are regarding to receptor serine kinases.

A. The two serines in each Smad3 that were phosphorylated by the RI receptor kinase bind to phosphoserine-binding sites in the MH1 domains of a Smad3 or a Smad4, forming a stable complex containing two molecules of phosphorylated Smad3 (or Smad2) and one molecule of the co-Smad (Smad4).

B. The bound importin then mediates translocation of the heteromeric R-Smad/co-Smad complex into the nucleus.

C. After importin dissociates inside the nucleus, the Smad3/Smad4 (or Smad2/Smad4) complex binds to other transcription factors to activate transcription of specific target genes.

D. Transcription of the PAI-1 gene requires formation of a complex of the transcription factor TFE3 with the R-Smad/co-Smad (Smad3/Smad4) complex and binding of all these proteins to specific sequences within the regulatory region of the PAI-1 gene.

E. Within the nucleus, R-Smads are further modified by phosphorylation of their linker domains, monoubiquitinylation of their MH1 domains, acetylation of their MH2 domains, and dephosphorylation of the C-terminal serines by nuclear phosphatases.

Which of the following combination is incorrect?

#Unit 4. Cell Communication and Cell Signaling

  1. A, B and E

  2. C and D

  3. A and E

  4. B only

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TLS Online TPP Program

#Question id: 12487

#Unit 8. Inheritance Biology

Neurofibromatosis type 1 is one of the most common autosomal dominant disorders. A woman with neurofibromatosis type 1 has an unaffected partner. Which of the following is correct regarding their children?
TLS Online TPP Program

#Question id: 12488

#Unit 8. Inheritance Biology

Retinoblastoma usually occurs as a sporadic event but in around 10% of cases there is a positive family history due to autosomal dominant inheritance. In these families the penetrance is approximately 80% (= 0.8). A woman with retinoblastoma, whose father and grandfather were also affected, has an unaffected partner with no relevant family history. Which of the following is correct regarding their children?
TLS Online TPP Program

#Question id: 12489

#Unit 8. Inheritance Biology

Achondroplasia shows autosomal dominant inheritance with complete penetrance. A man with achondroplasia has an unaffected partner of normal height. Their first two children are not affected. Which of the following is correct?
TLS Online TPP Program

#Question id: 12490

#Unit 8. Inheritance Biology

Tay-Sachs disease shows autosomal recessive inheritance. Parents of a newly diagnosed affected child are referred for genetic counselling. It would be correct to tell them that:
TLS Online TPP Program

#Question id: 12491

#Unit 8. Inheritance Biology

Phenylketonuria shows autosomal recessive inheritance with an incidence of 1 in 10000. Assume that the population is in Hardy-Weinberg equilibrium. Which of the following is correct?
TLS Online TPP Program

#Question id: 12492

#Unit 8. Inheritance Biology

A young man with phenylketonuria, who was successfully treated following diagnosis on newborn screening, is planning to start a family with his healthy, unaffected, and unrelated partner, who has no family history of phenylketonuria . Phenylketonuria shows autosomal recessive inheritance with an incidence of 1 in 10 000. Assume that the population is in Hardy-Weinberg equilibrium. Which of the following is correct?