BIOLOGY - LOOSELEAF TEXT ONLY
BIOLOGY - LOOSELEAF TEXT ONLY
14th Edition
ISBN: 9781266343445
Author: Mader
Publisher: MCG
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Chapter 13, Problem 1TC
Summary Introduction

To determine:

How mutations outside the genes as in case of Hirschsprung disease and multiple endocrine neoplasia can alter gene expression.

Introduction:

Mutation is any sudden and heritable change in DNA (deoxyribonucleic acid). The permanent alteration of nucleotide sequence of DNA can be referred as mutation. It can be caused due to many factors. One such factor can be replication error or exposure to carcinogens or radiation.

Expert Solution & Answer
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Explanation of Solution

Mutations occurring outside the genes can also alter gene expression. This can be understood with the help of two diseases; Hirschsprung disease and Multiple endocrine neoplasia.

1.) Hirschsprung disease: This disease causes the absence of nerves in different parts of intestines. Three genes (RET, EDN3, and EDNRB) are associated with the normal functioning of these intestinal nerves. All the three genes code for proteins. Any mutation in these proteins causes poor growth or absence of in the intestinal nerves leading to Hirschsprung disease.

2.) Multiple endocrine neoplasia: This disease is caused due to tumor formation that disrupts the normal functioning of the ductless endocrine glands. Multiple endocrine neoplasia can be of type I and type II. Both these types affect the gene expression of the endocrine glands.

Conclusion

Mutations outside the genes can also affect expression of the genes. This is seen in case of Multiple endocrine neoplasia and Hirschsprung disease.

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