BIO156 / Lab Project / My Chromosome and DNA and RNA
The objective of part one of this lab was to be able to interpret and
communicate the information that genes hold and to become a little more
appreciative of the Human Genome. There are three billion pairs of human DNA
and they are packed onto 46 separate structures called chromosomes. These
chromosomes also contain histones, or proteins, that convey structure to
the chromosome molecule. A gene is a short segment of the DNA that contains the
recipe for one or more proteins. There are approximately 20,000 genes on the 46
chromosomes. The chromosome I was assigned was number 11. The following are the
8 genes I picked from chromosome 11:
1. INS or insulin. The binding of insulin to the insulin receptor (NSR), stimulates glucose uptake. There have been a number of mutant alleles identified with phenotypic effect or traits.
2. WT1 or Wilms tumor. This gene is essential in normal development of the urogenital system. When it mutates you have Wilms tumor.
3. APOA1 or apolipoprotein A-1. This gene encodes apolipoprotein A-1, which is a major component in HDL in plasma. It promotes cholesterol efflux from tissues to the liver for excretion. Defects are associated with HDL deficiencies, including Tangier disease.
4. HBB or Hemoglobin beta. This gene determines structure of two types of polypeptide chains in adult hemoglobin HbA. Mutant beta globin causes sickle cell anemia.
5. F2 or Coagulation factor II (thrombin). This gene forms thrombin in the first step of the coagulation cascade, which results in stemming blood loss. It also plays a role in maintaining vascular integrity during development and postnatal life. Mutations lead to various forms of thrombosis and dysprothrombinemia.
6. IGF2 or insulin-like growth factor (somatomedia A). This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, only from the paternal allele. Epigenetic changes are associated with Wilms tumor, Beekwith-Wiedemann syndrome, Silver-Russell syndrome, and rhabdomyosarcoma.
7. PGR or progesterone receptor. This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates physiological effects of progesterone, which plays a central role in reproductive events associated with establishing and maintaining pregnancy.
8. DRD4 or Dopamine receptor D4. This gene encodes a subtype of the dopamine receptor. It is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs that treat schizophrenia and Parkinson's disease. Mutations are associated with behavorial phenotypes, including autonomic nervous system dysfunction, ADD, and the personality trait of novelty seeking.
The human genome is all of the DNA that comprises us as humans. It takes a
bit of real study to even begin to understand how it all fits together, from
your basic elements into a human body that functions in this world that we call
life. It seems to me that we are comprised of universe after universe within
our bodies. The Human Genome Project is an amazing program attempting to define
all of the genes within our makeup, which is a huge undertaking, but one that
will be of enormous benefit to our species. These 8 genes are just the tip of
the iceberg. If I had to pick a favorite, I would say PGR, or progesterone
receptor. Mainly because I, myself, have had some issues with this
Human Biology, 6th Edition, Michael D. Johnson