Chapter 3 Approaches to development: developmental genetics - Answers

1. What are the genotype and the phenotype?

The genotype is the set of particular allelic variants of genes present in one individual. The
phenotype is the overall morphology, physiology, and behavior of the organism.
2. Why are mutants dominant or recessive?
Recessive mutations are generally loss of function, so the wild-type allele on the other
chromosome compensates for the defect. Dominant mutations are often gain of function, where
the mutated version of the protein has an altered function compared to the wild type. Dominant
mutations may also often be loss of function in cases where loss of 50% of the activity causes an
abnormal phenotype (haploinsufficient).
3. What is a maternal-effect mutation?
One where the phenotype depends on the genotype of the mother rather than the genotype of the
individual itself.
4. What is an “autonomous” mutation?
One where the effect is confined to the mutant cells of a genetic mosaic. Typically, the mutation
would lie in a gene coding for an intracellular protein.
5. How many genes does an animal contain?
Between about 13,000 (insect) and 26,000 (vertebrate).
6. List four general methods for experimentally inhibiting the activity of a specific gene.
(i) Loss-of-function mutation.
(ii) Introduction of a dominant negative version of gene.
(iii) Introduction of an antisense reagent (e.g. RNAi, morpholino).
(iv) Introduction of a neutralizing antibody.
7. Why do many loss-of-function mutations show little or no abnormal phenotype?
Because of extensive redundancy of function between different genes.

Essential Developmental Biology, Third Edition. Jonathan M.W. Slack.

© 2013 John Wiley & Sons, Ltd. Published 2013 by John Wiley & Sons, Ltd.