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7:00 video: This film is the first of a two part series on the evolution of new genetic information. Here we focus on Point Mutations - the simplest natural mechanisms known to increase the genetic information of a population. Our second film of the series will focus on duplication events - natural mutations that increase the total amount of genetic information of an individual. This film was produced under the guidance of molecular biologist Dr. Nicholas Casewell. http://www.lstmed.ac.uk/about/people/... Point mutations are small, natural edits in the DNA code of an individual. These edits can be passed from parent to child. Because they are mere edits, point mutations usually do not increase the total amount of information in an individual. As new information is gained, old information is lost. Point mutations do, however, increase the total amount of information within a population. In this film you will see several examples of beneficial point mutations which have enhanced a creatures abilities or even given rise to entirely new abilities. The first two examples were directly observed in bacteria by scientists in the lab. The third is a case found in domestic dogs, the last example was discovered in several species of wild animal.

Paul Andersen describes the major mutations found in the living world. He starts with an analogy comparing the information in DNA with the information in a recipe. Changes in the DNA can result in changes to the protein, like changes in the recipe can result in changes in the food. He describes the three major point mutations; substitutions, deletions and insertions. He also describes several chromosomal mutations.

In our first animation of this series we learned how point mutations can edit genetic information. Here we see how duplication events can dramatically lengthen the genetic code of an individual. As point mutations add up in the duplicated region across generations, entirely new genes with new functions can evolve. In the video we see three examples of gene duplications resulting in new traits for the creatures who inherit them: the evolution of a venom gene in snakes, the evolution of leaf digestion genes in monkeys, and the evolution of burrowing legs in hunting dogs.

In 1977, a University of Oxford statistician named Richard Peto pointed out a simple yet puzzling biological fact: We humans should have a lot more cancer than mice, but we don't. Dr. Peto's argument was beguilingly simple. Every time a cell divides, there's a small chance it will gain a mutation that speeds its growth. Cells that accumulate several of these mutations may become cancerous. The bigger an animal is, the more cells it has, and the longer an animal lives, the more times its cells divide. We humans undergo about 10,000 times as many cell divisions as mice - and thus should be far more likely to get cancer.

The most recent human retroviral infections leading to germ line integration took place with a subgroup of human endogenous retroviruses called HERVK(HML-2). The human genome contains ~90 copies of these viral genomes, which might have infected human ancestors as recently as 200,000 years ago. HERVs do not produce infectious virus: not only is the viral genome silenced - no mRNAs are produced - but they are littered with lethal mutations that have accumulated over time. A recent study revealed that HERVK mRNAs are produced during normal human embryogenesis. Viral RNAs were detected beginning at the 8-cell stage, through epiblast cells in preimplantation embryos, until formation of embryonic stem cells (illustrated). At this point the production of HERVK mRNA ceases. Viral capsid protein was detected in blastocysts, and electron microscopy revealed the presence of virus-like particles similar to those found in reconstructed HERVK particles. These results indicate that retroviral proteins and particles are present during human development, up until implantation.

Quintana-Murci and his colleagues also took advantage of a previously published map of areas of the human genome where Neanderthal genes are present, showing that innate immune genes are generally more likely to have been borrowed from Neanderthals than genes coding other types of proteins. Specifically, they noted that 126 innate immune genes in present-day Europeans, Asians, or both groups were among the top 5 percent of genes in the genome of each population most likely to have originated in Neanderthals. The cluster of toll-like receptor genes, encoding TLR 1, TLR 6, and TLR 10, both showed signs of having been borrowed from Neanderthals and having picked up adaptive mutations at various points in history. Meanwhile, a group led by Janet Kelso of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, used both the same previously published Neanderthal introgression map that Quintana-Murci used and a second introgression map. The researchers searched for borrowed regions of the genome that were especially long and common in present-day humans, eventually zeroing in TLR6, TLR10, and TLR1. These receptors, which detect conserved microbial proteins such as flagellin, are all encoded along the same segment of DNA on chromosome four.

This site provides biochemical methods and computer tools to allow students to use their own DNA "fingerprints" as a starting point in the study of human evolution. Two experiments are currently available, which are supported by reagents and ready-to-use kits available from Carolina Biological Supply Company.