SRD5A2: 5-alpha-reductase type 2 and Male Pattern Baldness 

This web page was produced as an assignment for Gen677 at UW-Madison Spring 2009.

Profile   Homology   Phylogeny    Motifs

Sequence Motifs

    Sequence analysis using MOTIF with a 95% cutoff score revealed two major DNA motifs in the human gene for SRD5A2 (see below).  Heat Shock Factor (HSF) was the most common in all of the homologs, which isn't surprising since most proteins will be under some sort of heat shock regulation and will denature when exposed to high temperatures.  An interesting Motif that was discovered multiple times was alcohol dehrdrogenase gene regulator one.  Since SRD5A2 is itself a dehydrogenase, it seems probably that it would be under similar genetic control to other dehydrogenases. 
    Interestingly one group of researchers discovered a novel motif that is highly mutated in prostate cancer.  The motif is variable across many cases, but follows the pattern of WKVnRRRnVWK, where W=A/T, K=G/T, V=G/A/C, and R is a purine(A/G).  They named this motif THEMIS after the Greek goddess of prophecy (1).  Unfortunately, I was unable to find this motif in the human sequence using the MEME database.  Perhaps because this motif was so recently discovered, it is not recognized in the database. 

References

1.  Markridakis, N.M., Caldas Ferraz, L.F., and Reichardt, J.K.  2009. Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif.  Hum Mutat. 30(1):39-48
2.  http://motif.genome.jp
3.  http://meme.sdsc.edu/meme4/intro.html