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Exam 2-4
Genetics
| Term | Definition |
|---|---|
| maternal effect | genes in the nucleus, inheritance patterns of certain genes, genotype of the mother directly determines the phenotype of her offspring, due to accumulation of gene products in eggs |
| epigenetic inheritance | genes in the nucleus, genes modified, pattern in which a modification occurs to a nuclear gene or chromosome that alters gene expression |
| Mendelian inheritance rules | 1. expression of genes in offspring directly influence their traits 2. genes passed unaltered from generation to generation 3. obey Mendel's law of segregation 4. crosses that involve more than one gene obey Mendel's law of independent assortment |
| extranuclear inheritance | genes in organelles other than the nucleus (mitochondria, chloroplasts), pattern in which modification occurs to a nuclear gene or chromosome that alters gene expression |
| linkage | genes in the nucleus, two or more genes close to each other on the same chromosome |
| dosage compensation | to offset differences in the number of active sec chromosomes, |
| X-chromosome inactivation | random X-chromosome in females because inactive at young age, DNA becomes highly condensed, |
| Lyon hypothesis | 1963, Ronald Davidson, Harold Nitowsky, Barton Childs- dosage compensation in mammals is due to X-chromosome inactivation, analyzed X-linked gene that encodes G-6-PD used in sugar metabolism |
| genomic imprinting | phenomenon in which a segment of DNA is marked and the effect is maintained throughout the life or the organism inheriting the marked DNA |
| how many stages of imprinting | 3 |
| DNA methylation | marking process, methylated on either the oocyte or the sperm, not both |
| Imprinting control region | ICR, near the imprinting site |
| Prader-Willi syndrome (PWS) | reduced motor function, obesity, small hands and feet |
| gametogenesis | genomic imprinting |
| early embryonic development | dosage compensation/ X-linked inactivation |
| oogenesis | how maternal effect can be explained |
| example of maternal effect | curvature of snail bodies that depend on cleavage pattern of the egg immediately after fertilization |
| maternal effect rule | breaks Mendel's rule 1 |
| epigenetic inheritance | breaks Mendel's rule 2 |
| extranuclear inheritance | breaks Mendel's rule 3 |
| linkage | breaks Mendel's rule 4 |
| Barr body | where chromosomes are condensed during dosage compensation |
| Genes that escape inactivation | can be expressed in somatic cells of adult female mammals, pseudoautosomal genes, dosage compensation then unnecessary |
| monoallelic expression | when offspring either inherit the mother or fathers "marked" genes, but not both |
| Stages of Imprinting: Establishment of the imprint | during gametogenesis |
| Stages of Imprinting: Maintenance of the imprint | during embryogenesis + in adult somatic cells |
| Stages of Imprinting: Erasure and reestablishment | in germ cells |
| Genomic imprinting can involve | single gene, part of chromosome, all chromosomes, X inactivation in some species |
| Angelman syndrome (AS) | hyperactivity, thinness, unusual seizures, repetitive symmetrical muscle movements, mental deficiencies |