18 Genetics and Development 2 Flashcards
List and describe the processes involved in morphogenesis 4
- Proliferation = cell division
- Differentiation = acquisition by a cell of novel characteristics specific to cell type or tissue
- Migration = cell movement within the embryo
- Apoptosis = programmed cell death
Describe how developmental genes control development
Transcription factors control development
- Different combinations of transcription factors expressed at different places and at different times -> **Spatiotemporal regulation of development **
Describe how chromosomal abnormalities arise: (5)
- Abnormal chromosome segregation
- Recurrent chromosomal syndromes
- Idiopathic chromosome abnormalities
- Unbalanced familial abnormalities
- Syndromes involving genomic imprinting
Underlying mechanism of the five chromosomal abnormalities:
- Abnormal chromosome segregation - nondisjunction
- Recurrent chromosomal syndromes - Recombination at segmental duplications
- Idiopathic chromosome abnormalities - sporadic, variable breakpoints // De novo balanced translocations
- Unbalanced familial abnormalities: Unbalanced segregation
- Syndromes involving genomic imprinting: Any event that reveals imprinted gene(s)
Define teratogen
Any agent that can disturb the development of an embryo or fetus
What are the (4) factors that influence teratogenicity
- Timing
- Dosage
- Genotype of Fetus
- Genotype of mother
Describe the (4) factors that influence teratogenicity:
1. Timing
2. Dosage
3. Genotype of Fetus
4. Maternal Genotype
- Timing: Gestational age at time of exposure to teratogen (dif organs develop at dif times so sensitivy to teratogen and affected organ(s) will vary)
- Dosage - How much of the teratogen was the fetus exposed
- Genotype of Fetus - may be more or less resistant to teratogen because of inactivation of teratogen
- Genotype of mother - differ in ability to detoxify the teratogen
What is a morphogen?
- substance produced by cells in particular region of embryo
- diffuses from its point of origin through the tissues of the embryo
- Form a concentration gradient
- Cells undergo specification and then determination to different fates
What is SHH and what is its role in development?
SHH - sonic hedgehog
- morphogen that generates a gradient
- Induces and organizes the different cell types and tissues in the developing brain and spinal cord
Abnormalities in SHH can lead to:
- holoprosencephaly = failure of the midface and forebrain to develop
- cleft lip and palate
- hypotelorism (eyes close together)
- Variable expressivitiy within the same family
- Affected by other modifier genes, chance, env’t, or combination of those three
What is FGF? Examples of abnormalities?
- Fibroblast growth factors
- one of many ligand-receptor pairs important in development
- Involved in bone development
- eg: achodroplasia; FGFR3 mutations
Consequences/Examples of Abnormal Chromosome Segregation
Abnormal Chromosome Segregation
Aneuploidy
- Down syndrome
- Klinefelter syndrome
- Uniparental disomy
Underlying mechanism: Nondisjunction
Consequences/Examples of Recurrent chromosomal syndromes
- Duplication/deletion syndromes
- Copy number variation
Underlying mechanism: Recombination at segmental duplications
Consequences/Examples of idiopathic chromosome abnormalities:
Deletion syndromes:
- Cri du chat syndrome (del5p15)
- 1p36 deletion syndrome
Consequences/Examples of unbalanced familial abnormalities
Offspring of balanced translocations
Offspring of pericentric inversions