What is the term for biologically meaningful dna sequences?
babies
atoms
eggs
genes
disease is sex-linked and effects mainly males (who are XY, compared to XX females).273 In the unaffected population, the FMR-1 gene contains between 6 to 50 copies of a CGG repeat. Individuals with between 6 to 50 repeats are phenotypically normal. Those with 50 to 200 repeats carry what is known as a pre-mutation; these individuals rarely display symptoms but can transmit the disease to their children. Those with more than 200 repeats typically display symptoms and often have what appears to be a broken X chromosome – from which the disease derives its name. The pathogenic sequence in Fragile X is downstream of the FMR1 gene's coding region. When this region expands, it inhibits the gene's activity. 274 Other DNA Defects: Defects in DNA repair can lead to severe diseases and often a susceptibility to cancer. A OMIM search for DNA repair returns 654 entries! For example, defects in mismatch repair lead to a susceptibility to colon cancer, while defects in translation-coupled DNA repair are associated with Cockayne syndrome. People with Cockayne's syndrome are sensitive to light, short and appear to age prematurely.275 Summary: Our introduction to genes has necessarily been quite foundational. There are lots of variations and associated complexities that occur within the biological world. The key ideas are that genes represent biologically meaningful DNA sequences. To be meaningful, the sequence must play a role within the organism, typically by encoding a gene product (which we will consider next) and/or the information needed to insure its correct “expression”, that is, where and when the information in the gene is used. A practical problem is that most studies of genes are carried out using organisms grown in the lab or in otherwise artificial or unnatural conditions. It might be possible for an organism to exist with an amorphic mutation in a gene in the lab, whereas organisms that carry that allele may well be at a significant reproductive disadvantage in the real world. Moreover, a particular set of alleles, a particular genotype, might have a reproductive advantage in one environment (one ecological/ behavioral niche) but not another. Measuring these effects can be difficult. All of which should serve as a warning to consider skeptically pronouncements that a gene, or more accurately a specific allele of a gene, is responsible for a certain trait, particularly if the trait is complex, ill-defined, and likely to be significantly influenced by genomic context (the rest of the genotype) and environmental factors. Questions to answer & to ponder: • What happens in cells with defects in DNA repair systems when they attempt to divide? • I thought RNA primers were used to make DNA! So why is there no uracil in a DNA molecule? • A base is lost, how is this loss recognized by repair systems? • How could a DNA duplication lead to the production of a totally new gene (rather than just two copies of a pre-existing gene)? • How does a mutation generate a new allele? And what exactly is the difference between a gene and an allele? 273.