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Unformatted text preview: mutations can destabilize 2˚ and 3˚ structures so a protein
unfolds at a lower temperature than it normally would
• tyrosinase protein (→ melanin) is encoded by different
• tyrosinase protein encoded by some alleles folds properly
only in the coolest parts of the cat’s skin. Burmes
e what are the
Siamese Different alleles with different outcomes… another example
cbcb or cbcs
or cb c
C gene encodes
first step in melanin
synthesis what are these alleles?
• cs : G302R
• cb : G227W Siamese
cscs or csc Other types of mutations are possible
in promoter could affect
in intron could affect splicing
pre-mRNA mature mRNA in 5’ or 3’ UTR could affect
Any of these changes could change when, where,
or how much protein is made “Half the amount of wt gene product is
sufficient for wt phenotype” are there exceptions?
yes, but they are rare rare exception #1—haploinsufficiency
Half the number of
protein molecules is
lof/lof not sufficient to
short tail mutant tail length
normal tail amount of
protein genotype: short tail
wt/wt wt/lof lof/lof • is the mutant
dominant or recessive? rare...
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This note was uploaded on 10/16/2013 for the course BBIO 360 taught by Professor Marcservetnick during the Fall '12 term at University of Washington.
- Fall '12