Tuesday, September 12, 2006

S.O.T.*: A Novel Mutation in Human PAX9 Causes Molar Oligodontia

*So off-topic! (nothing to see here... testing the go ogle b o t... )

A Novel Mutation in Human PAX9 Causes Molar Oligodontia

Abstract
Experimental and animal studies, as well as genetic mutations in man, have indicated that the development of dentition is under the control of several genes. So far, mutations in MSX1 and PAX9 have been associated with dominantly inherited forms of human tooth agenesis that mainly involve posterior teeth. We identified a large kindred with several individuals affected with molar oligodontia that was transmitted as an isolated autosomal-dominant trait. Two-point linkage analysis using DNA from the family and polymorphic marker D14S288 in chromosome 14q12 produced a maximum lod score of 2.29 at {Theta} = 0.1. Direct sequencing of exons 2 to 4 of PAX9revealed a cytosine insertion mutation at nucleotide 793, leading to a premature termination of translation at aa 315. Our results support the conclusion that molar oligodontia is due to allelic heterogeneity in PAX9, and these data further corroborate the role of PAX9 as an important regulator of molar development.
http://jdr.iadrjournals.org/cgi/content/full/81/2/129


(yeah, that's abstract alright! )

3 comments:

  1. Anonymous4:09 PM

    Dear sir,

    I am writing to complain about your post on Molar Oligodontia.

    The theory surrounding the development of dentition is no joking matter.

    Why, just the other day I was was reading about dominantly inherited forms of human tooth agenesis -- and I realized I had forgetten to cross reference molar oligodontia that was transmitted as an isolated autosomal-dominant trait.

    Clearly, two-point linkage analysis using DNA from the family insertion mutation termination was at work, due to allelic heterogeneity!

    So you can understand how I felt.

    ReplyDelete
  2. Anonymous8:59 PM

    Please, sir, do not regulate my molar development.

    Thank you.

    ReplyDelete
  3. Anonymous3:59 PM

    The bible is clearly against allelic heterogeneity.

    By promoting the Heterogenous Agenda, you are at risk of invoking god's wrath, and very likely hurricanes or at least tropical depressions.

    Signed,

    A Believer.

    ReplyDelete