Influence of Genetic Variants on Phenotype (OCR Gateway GCSE Biology)

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Gene Expression

Higher Tier Only

  • The human genome contains all of the genetic information that an organism requires to function
  • This includes sections of DNA which are called coding DNA and non-coding DNA
  • Coding and non-coding DNA both play a role in gene expression

Coding DNA

  • Coding DNA refers to the genes of an organism which provide the instructions required to synthesize proteins
  • Only a small proportion of the genes in the genome may be expressed at any time
  • This is because genes must be activated if they are to be expressed

Non-coding DNA

  • Non-coding DNA does not code for proteins
  • However, it can influence protein synthesis through interactions with the coding regions of DNA
  • Non-coding DNA can cause activation or deactivation of genes in the coding DNA

mutations-in-coding-and-non-coding-dna-1

DNA is made up of regions of coding DNA and regions of non-coding DNA, both regions are involved in gene expression

Mutations and gene expression

  • Some genetic variants (resulting from mutation) can influence the phenotype of the organism
  • Variants which directly impact gene expression work by
    • Altering the DNA base sequence within the coding DNA regions of the genome
    • The mutation significantly alters the structure of the protein produced
    • This results in a non-functional protein
      • For example, an enzyme active site may be altered significantly so that the substrate no longer fits
  • Variants which indirectly impact gene expression work by
    • Altering the DNA base sequence within the non-coding DNA regions of the genome
    • This mutation can have two effects on the coding DNA
      • It may activate genes in the coding regions resulting in transcription of a gene which was previously not being expressed
        • A protein is produced
      • It may inactivate genes in the coding regions which halts transcription of a gene which was previously being expressed
        • A protein isn't produced

mutations-in-coding-and-non-coding-dna-2

Gene expression can be affected directly and indirectly by mutations within the coding and non-coding DNA

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Ruth

Author: Ruth

Expertise: Biology

Ruth graduated from Sheffield University with a degree in Biology and went on to teach Science in London whilst also completing an MA in innovation in Education. She gained 10 years of teaching experience across the 3 key science disciplines and physical education. Ruth decided to set up a tutoring business to support students in her local area. Ruth has worked with several exam boards and loves to use her experience to produce educational materials which make the mark schemes accessible to all students.