GENE 320 Lecture Notes - Lecture 17: Myotonic Dystrophy, Five-Prime Cap, Galactose
Document Summary
More susceptible to chromosome breakage when cultured in absence of folic acid or other chemicals. Folate sensitive site on x chromosome exhibit fxs. Most common form of inherited mental retardation; dominant trait chance of mutations increase as cgg repeats become more prevalant. Normal -> intermediate (gray zone) -> premutation/carrier (chance to give mutation to offspring) -> full mutation. Link between autosomal fragile site and lung cancer reported. Fhit (fragile histidine triad) gene on fragile site location fra3b altered or missing in lung cancer cells. Normal protein product of this gene absent in other types of cancer cells. *eukaryotic gene regulation can occur at any of the steps leading from dna to protein product. Located on same chromosome as gene that it regulates. Nucleotide sequences that serve as recognition sites for transcription machinery. Proximal promoter elements: modulate ef ciency of basal levels of transcription. Seen at dramatically lower levels compared to other elements speci c transcription initiation at start site.
