Osteogenesis imperfecta is a disease caused by a mutation in collagen (type X), which causes the...

Osteogenesis imperfecta is a disease caused by a mutation in collagen (type X), which causes the infected individual to have brittle bones that easily fracture. Collagen typically has a triple helical structure consisting of three intertwined polypeptide chains (as shown below) with each polypeptide chain having a glycine every third amino acid.

While Osteogenesis imperfecta can be caused by a variety of mutations, a single amino acid change is sufficient to cause certain forms of the disease. If the mutation resulted in the glycine being changed to another amino acid, which amino acid do you think would be most likely be responsible for this disease? In a sentence, explain your choice.

Write down both the tRNA and coding DNA sequence for the amino acid found in the wild-type protein. Make sure to label the 5’ and 3’ ends.

Where in the cell would collagen be produced? Briefly explain why.

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Expert Solution

Osteogenesis imperfecta causes brittle bone due to mutations in the COL1A1 or COL1A2 gene results in reduction in type I collagen. It results in structural modulation of type I collagen molecules.

Osteogenesis imperfecta can be caused by a variety of mutations, a single amino acid change is sufficient to cause certain forms of the disease.

If the mutation resulted in the glycine being changed to another amino acid,

The triplet codon for glycine are :

GGU,GGC,GGA,GGG.

If single nucleotide change happens at first codon and replaced by A/C, the possible aminoacids are

5' AGU 3', 5' AGC 3' SeR

5' AGA 3' 5' AGG 3', 5'CGU3', 5'CGC3', 5'CGA3', 5'CGG3'. - Arg.

If it is replaced by U, the possiblities are either Cys or stop codon which ends the translation process and the codon are UGU,UGC,UGA,UGG all are from 5' to 3'

Incase the substitution happens at second codon by U, it would give

GUU,GUC,GUA,GUG - Val

If second codon substituted by C,

GCU,GCC,GCA,GCG - Ala.

Similarly, the substitution of second codon G by A, would give Asp/Glu.

Collagen is a secretory protein and the predominant insoluble fibrous protein of ECM and connective tissue. They are synthesized as long growing peptide chains called procollagens as longer precursors. They are co-translationally transported into the rough endoplasmic reticulum

gladiator answered 1 year ago

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