Professor David Porteous explains that breakpoints in the genome are locations on a chromosome where DNA might get deleted, inverted, or swapped around.
Well, we use the word breakpoint to indicate that the human genome, which we now understand in terms of a set of chromosomes - 22 pairs plus the sex chromosomes - the x and y. The standard notion is that we have a complete set of those chromosomes and that they have a very clear structure but occasionally we see damage to those chromosomes. Sometimes we get so-called breakpoints in those chromosomes and that leads to damage at a very particular point within the genome on one or other chromosome. And it can take several different forms. It might be that you lose a whole segment of a chromosome, what we call an interstitial deletion. It might be that a piece of the DNA chromosome segment gets flipped around, a so-called inversion. Then there's a very interesting form of rearrangement, which we call a translocation, translocation moved position. So we see a piece of one chromosome move over to another chromosome and swap. So the genome is intact but there's a very precise breakpoint where there's a discontinuity in the genome from the normal.
breakpoint, chromosome, dna, interstitial, deletion, inversion, translocation, rearrangement, david, porteous
Professor David Porteous discusses how his group discovered the DISC1 gene, which is a balanced translocation between chromosomes 1 and 11.
Professor David Porteous explains that a translocation is the relocation of part of one chromosome to a another chromosome.
Professor David Porteous describes how his group was first alerted to the DISC1 gene, which was found in a family with a pedigree of schizophrenia and psychoses.
Disrupted in Schizophrenia 1 (DISC1) is a candidate gene for schizophrenia.
Sometimes chunks of DNA rearrange themselves, making them genetically unstable and prone to error.
Each chromosome can be broken up into haplotype blocks or "haploblocks" that are rearranged during meiosis.
Barbara McClintock did pioneer work in plant genetics. She received the Nobel Prize for Physiology or Medicine in 1983.
An interactive chromosome map of the genes and loci associated with schizophrenia.
Professor David Porteous discusses genes for schizophrenia and points out that susceptibility likely aligns to a combination of genetic variants.