Developmental Biology
Developmental Biology
11th Edition
ISBN: 9781605354705
Author: Scott F. Gilbert, Michael J. F. Barresi
Publisher: Sinauer Associates is an imprint of Oxford University Press
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Chapter 3, Problem 1DQ
Summary Introduction

To review:

The consequences of enhancer modularity to a developing individual and to a species. The effect of mutations in an enhancer development, if there were a mutation in the enhancer region of Pax6 gene on embryo. Does such a mutation have evolutionary importance.

Introduction:

The enhancer sequences on the DNA are same in every cell type, the combination of transcription factor proteins that the enhancers experience. When combined with enhancers, the transcription factors possess tendency to suppress or enhance the capacity of RNA polymerase II to initiate the process of transcription.

Expert Solution & Answer
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Explanation of Solution

The transcription factors can combine with an enhancer, and the particular combination of transcription factors existence permits a gene to be vigorous in a specific kind of cell. The similar transcription factors in combination with distinct amalgamations of factors will stimulate different promoters in different cells.

The mouse Pax6 gene expressed in the lens, cornea, and retina of the eye, in the neural tube, and pancreas has several enhancers. Pax-6, paired box protein, known as aniridia type II is a protein encrypted by the PAX6 gene in the humans. The Pax-6 is a transcription factor present at the time of embryonic development and it is essential regulatory gene of the brain and eye development. The brain's interior contains proteins in the development of the specific cells that develops smell. Pax6 activates and deactivates the gene expression patterns to make sure for the proper progression of the tissue. Mutations in Pax-6 gene cause profound effect and numerous syndromes of the eyes. The two usual disorder related to Pax-6 gene are thinning and clouding of the cornea, aniridia (absence of iris), and Peters' anomaly.

Conclusion

Therefore, it is concluded mutations in Pax-6 gene cause profound effect and numerous syndromes of the eyes. These mutations have evolutionary importance as these mutated gene is carried out by offspring to further generations.

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