Tuesday, April 7, 2009

Human fertility gene found


Here's another little nugget to throw into your lecture on reproduction . . . researchers recently identified a gene that improves fertility in humans.

The CFTR (cystic fibrosis transmembrane conductance regulator) gene in chromosome 7 (q31.2) may have a single amino acid substitution (valine instead of methionine in exon 10) that is correlated with improved fertility among male parents.

You may recall that different mutations of the CFTR gene may instead cause cystic fibrosis (CF) [see Anatomy & Physiology 7ed. p. 119-120, 1118-1119].

This nugget can be used in your A&P class to emphasize the concept that the amino acids assembled during translation from the genetic code have to be in the specific and exact order in order to function properly. Mutations to this gene, for example, can reduce normal function (as in a CF mutation) . . . or they can improve function (as in the fertility-enhancing mutation described here).

This nugget can also be used to explain why it's important to know about amino acids and protein structure . . . and the relationship of the genetic code to this structure. Perhaps it's a good idea to even be able to recognize the names of amino acids like valine and methionine--news such as this will become more and more commonplace as the years go by and this will become common and expected knowledge among health professionals.

Obviously, this new information can color any discussions you have in your course regarding genetic mechanisms in general and genetic mechanisms of disease in particular.

Want to know more? Check this out:
Human Fertility Gene Found
Elie Dolgin
The Scientist 3 April 2009
[Good summary article about the discovery, which was presented on April 2, 2009, and will be published in the Proceedings of the National Academy of Sciences.]
[Click the image above for a FREE illustration that you can use in your class.]

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