FA2011lecture7

FA2011lecture7 - function impaired or eliminated), which...

Info iconThis preview shows pages 1–8. Sign up to view the full content.

View Full Document Right Arrow Icon
PROPERTIES OF MUTANT ALLELES <---- loss of function-----> <gain of function> property/name © leaky/ hypomorph © null/ amorph ® dominant negative/ antimorph ® hyper- morph ® neomorph typical kind of mutation missense deletion, nonsense, frameshift missense, nonsense missense, translocation translocation gene product quantity/activity reduced absent antagonist massively increased different, or same but in diff. location recessive (R) semidominant(SD) or dominant (D)? usually R; SD if gene is haplo- insufficient (unusual) usually R; SD if gene is haplo- insufficient (unusual) SD D or SD D or SD ©common ® relatively rare
Background image of page 1

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Most mutations are loss-of-function mutations (gene/protein
Background image of page 2
Background image of page 3

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Background image of page 4
Background image of page 5

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Background image of page 6
Background image of page 7

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Background image of page 8
This is the end of the preview. Sign up to access the rest of the document.

Unformatted text preview: function impaired or eliminated), which are generally recessive In this case, null mutation is semi-dominant because the gene is haplo-insucient ( l half is not enough z ; haploinsuciency is a property of gene, not mutation ). Other kinds of mutations can also be semi-dominant. dominant, neomorphic mutation found in Burkitts lymphoma cells fusion of the regulatory region of immunoglobulin gene (drives high levels of transcription in B lymphocytes) with coding region of the myc gene (promotes cell division) -&gt; B lymphocytes divide when they shouldnt myc protein same as in wild type, but expressed in a new location...
View Full Document

This note was uploaded on 01/16/2012 for the course BICD 100 taught by Professor Nehring during the Fall '08 term at UCSD.

Page1 / 8

FA2011lecture7 - function impaired or eliminated), which...

This preview shows document pages 1 - 8. Sign up to view the full document.

View Full Document Right Arrow Icon
Ask a homework question - tutors are online