Describe in detail how inserti
Describe in detail how insertion, deletion, andbase substitution of nucleotides can have a significant impact ongenes. Find three specific examples(actualgene mutations, not chromosome mutations) of waysin which a very small change in DNA can have a major impact on anorganism, and describe each mutation in detail.
Answer:
Insertion: In this mutation extra DNA basepairs are inserted into a new place or in the genes. The number ofbase pairs inserted can be one or many. Example: Huntington’sdisease in which nerve cells in the brain die and lead toinvoluntary movements, mental and cognitive abilities decreases.The Huntingtin gene codes a protein called ‘huntingtin’ which ishaving CAG (cytosine-adenine-guanine) triplet repeats, this repeatduplicates and expands producing more triplet inserts , resultingin abnormal protein folding leading to nerve cell damage
Deletions: In this mutation some part of geneor a length of nucleotides is deleted, it may range from one tothousands. Example: cri du chat (French for “cry of the cat”)syndrome, named for the distinctive cry affected infants make duein part to malformations of the larynx. Some part of three genesSemaphorine F (SEMA5A) and delta catenin (CTNND2), Telomerasereverse transcriptase, involved in cerebral development and larynxdevelopment
Substitution: It’s a mutation where one basepair is replaced/substituted by another base pair, for example insickle cell anaemia disease, change in a “single letter code”(nitrogen base lets say on sense strand of DNA producing mRNA ifAdenine (A) is replaced by Thiamine (T)) results in change in acodon to one that encodes a different amino acid and cause a changein the protein produced. In Sickle Cell Anaemia codon GAG mutatesto GTG resulting in change in amino acids Glutamate to Valine,resulting in complete change in the folding pattern of haemoglobinand red blood cell acquires the shape of a ‘sickle’ instead ofconcave shape, which in turn affects oxygen carrying ability andpatients suffers from anaemia.