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Human Molecular Genetics


This project report details the characteristics of human protein "MSH6" highlighting its significance, sequence and homologues. Expasy, Blast, OMIM etc are some of the online databases, which have been used to collect data. Out of the several organisms, Xenopus has been selected as model organism for studying the Cancer disease associated with MSH6 protein. Xenopus are bizarre-looking frog species with distinct features like small heads, absent eye lids etc. The sequence of the MSH6 protein closest matching homologue "Xenopus Laevis" protein is then illustrated, followed by comparison of amino acids of both the proteins. Moving ahead, the MSH6 gene is discussed along with its mapping with chromosomes, mutation and the associated diseases by laying focus on Colon Cancer.

Mutation is defined as a permanent change in the DNA sequence of a gene, which can even alter the amino acid sequence of the protein encoded by the gene. Mutation differs in size from a single DNA building block to a large segment of a chromosome ( Mutations can occur in the following ways:

  • Hereditary or germline mutation which is mutation inherited by child from a parent. Mutation of this type is present throughout a person's life in almost every cell in the body.
  • New mutation which occur just after the fertilization and are only present in an egg or sperm cell. No family history of disorder is related with this kind of mutation.
  • Acquired Mutation, which occurs in the DNA of individual cells mainly due to environmental factors like ultraviolet rays from sun. This type of mutation occurs at some time during a person's life and cannot be passed to the next generation.

As mutation occurs during growth and development, the individuals usually have some cells with mutation and some cells without genetic change. Further, some genetic changes are very rare and are present in about 1 percent of the population and are known as polymorphisms. Polymorphism is the reason behind different eye colours, hair colours, blood type etc. Having said this, there are even those polymorphisms which involve high risk of developing certain disorders.

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