Non-Mendelian Genetics

Epigenetics: the study of heritable phenotypic changes that do not involve alterations in the
DNA sequence.

DNA Methylation - methyl groups are added to the DNA molecule.

Methylation can change the activity of a DNA segment without changing
the sequence. When located in a gene promoter, DNA methylation typically
acts to repress gene transcription.

Histone Acetylation - The acetylation of the amino group of a lysine on

histone neutralizes its positive, making the DNA more accessible and thus
increasing gene expression.

Thrifty phenotype hypothesis: when environmental conditions are

poor during fetal development, the phenotypic changes are likely to persist
and to be poor in adult life as well. For example, poor fetal and infant growth due to
factors like famine can result in subsequent development of type 2 diabetes in adulthood due to
the effects of poor nutrition in early life the effects of poor nutrition in early life which
permanently changes glucose-insulin metabolism.

Genomic Imprinting: the expression of some autosomal genes is significantly affected by their
parental origin. This differential gene expression depending on whether it is inherited from the
mother or father is called Genomic Imprinting.

 E.g. Igf2 gene (present on chromosome 11) exhibits genomic imprinting in

both mice and humans, which encodes a protein called insulin-like growth
factor 2 (Igf2).
 Offspring inherit one Igf2 allele from their mother and one from their father.
 The paternal copy of Igf2 is actively expressed in the fetus and placenta, but
the maternal copy is completely silent.
 The paternal Igf2 allele (but not the maternal allele) promotes placental and
fetal growth; when the paternal copy of Igf2 is deleted in mice, a small
placenta and low-birth-weight offspring result.