human diversity

Cassandra Smith clsmith at EXOGENE.GENETHON.FR
Sat Feb 6 04:13:01 EST 1993

Recently the human androgen receptor gene was isolated. Upon
sequencing it was found that this essential genes has within the
coding region in different locations three simple repeats.These
repeats code for a a poly glu, a poly pro and and a poly glm. Thus
far, polymorphisms have only be assessed in the poly glu repeat.  If
all the repeats are polymorphic, there will be an enormous, but
perhaps subtle variation, in the protein and the phenotype controlled
by this protein. Furthermore, there is the potential that this will be
not be an isolated case of variation in protein structure of an
essential and fundamental protein. This means the combinations of
genes that one might possess is potentially very large and variable.
Thus, these repeats may serve a useful purpose.

I have been told there are a large number of cases of these repeats in
genes in many organisms. Does the estrogen receptor gene have such
repeats? What other genes have this potential (especially does any one
know of other cases of multiple repeats within coding regions)?

Cassandra Smith

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