Read the following paragraph:

  1. Read the following paragraph:

“The human genomesequence provides the underlying code for human biology. Despiteintensive study, especially in identifying protein-coding genes,our understanding of the genome is far from complete, particularlywith regard to non-coding RNAs, alternatively spliced transcriptsand regulatory sequences. Systematic analyses of transcripts andregulatory information are essential for the identification ofgenes and regulatory regions and are an important resource for thestudy of human biology and disease. Such analyses can also providecomprehensive views of the organization and variability of genesand regulatory information across cellular contexts, species andindividuals. The Encyclopedia of DNA Elements (ENCODE) project aimsto delineate all functional elements encoded in the human genome.Operationally, we define a functional element as a discrete genomesegment that encodes a defined product (for example, protein ornon-coding RNA) or displays a reproducible biochemical signature(for example, protein binding, or a specific chromatin structure).”ENCODE Project Consortium (2012) An integrated encyclopedia of DNAelements in the human genome Nature 489:57074.

Consider the ENCODE definition of gene. What did you learnregarding the diversity of human physiognomy and physiology (both“normal” and pathologies) based on the genetic composition and geneexpression in humans?


Gene is a complex unit of DNA. The ENCODE definition of gene issimple, which states that the “discrete genome segment that encodesa defined product or displays a reproducible biochemicalsignature”. This definition covers both protein-coding genes aswell as the RNA coding and non-coding but regulatory genes.

  • The complexity arises because the majority of genes in thehuman body do not code for a protein, they are non-coding or codeof RNA, thus involved in regulatory mechanisms.
  • The diversity of human physiology is so vast that geneexpressions and functions vary according to body state andpathogenesis – due to alternate splice, regulatory RNAmolecules,…etc.
  • Identifying correct genes responsible for physiologicalactivities is important from a health perspective.
  • We need to know and understand the working of pathogenic genesand how they can infect and cause diseases – how pathogenic genesare combined in the human genome and code for pathogenic proteinslike in viruses.
  • It is also important to identify the genes involved in theimmune response against specific pathogens so that we can designbetter treatments.

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