Notes in IS001 Building a Human Body

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Published	10/08/2024	Define genome
Published	10/08/2024	How many pairs of chromosomes in humans? Where do each of the sets come from?
Published	10/08/2024	What is a Karyogram?
Published	10/08/2024	What is the goal of the Encyclopedia of DNA Elements (ENCODE) Consortium?
Published	10/08/2024	What were the main conclusions from ENCODE?  (4)
Published	10/08/2024	Can genetic changes occur outside the protein-coding region?
Published	10/08/2024	What are transposons?
Published	10/08/2024	Are most transposons active?
Published	10/08/2024	What is insertional mutagenesis?
Published	10/08/2024	What human diseases are related to retrotransposons? (3)
Published	10/08/2024	What do active transposons cause in terms of DNA damage? (4) What are these related to?
Published	10/08/2024	Define chromatin
Published	10/08/2024	What is euchromatin?
Published	10/08/2024	What is heteoromatin?
Published	10/08/2024	What do chromatin modifications demarcate?
Published	10/08/2024	Define epigenome
Published	10/08/2024	Are epigenetic marks able to be passed on between cellular generations?
Published	10/08/2024	What is the 5th base?
Published	10/08/2024	What is genomic imprinting?
Published	10/08/2024	What does it mean if a gene is imprinted? What is the mechanism for imprinting?
Published	10/08/2024	Where is genomic imprinting established and maintained?  (2 places)
Published	10/08/2024	What is the consequence of imprinting being restricted to some regions of the genome?
Published	10/08/2024	In what ways does DNA methylation change during developmental epigenetic reprogramming
Published	10/08/2024	What is the main barrier to creating a viable embryo from two same-sex gametes? Explain using an example
Published	10/08/2024	What are the 5 functions of DNA methylation in mammals?
Published	10/08/2024	Why is X-inactivation necessary?
Published	10/08/2024	How is the X chromosome selected for inactivation?
Published	10/08/2024	What does the process of X inactivation rely on? How does this work?
Published	10/08/2024	Where are the X and Y chromosomes homologous?
Published	10/08/2024	At what week of development are primodrial germ cells evident?
Published	10/08/2024	In what layer are human primordial germ cells visible at week 4?
Published	10/08/2024	When do primordial germ cells migrate to the genital ridges during development?
Published	10/08/2024	Meiosis in woman is initiated {{c1::once}} during fetal life. Successive stages of meiosis take place over several decades
Published	10/08/2024	Meiosis in biological males is initiated {{c1::continuously }}
Published	10/08/2024	Define locus
Published	10/08/2024	Define sequence variant
Published	10/08/2024	Define allele
Published	10/08/2024	What is meiotic recombination?
Published	10/08/2024	When does meiotic recombination occur?
Published	10/08/2024	Recombination occus {{c1::at least once}} per pair of homologous chromosomes
Published	10/08/2024	The longer the chromosome the {{c1::more recombination events}} can occur
Published	10/08/2024	Sister chromatids are {{c1::no longer identical}} after recombination
Published	10/08/2024	Recombination {{c1::increased genetic diversity}} by changing the arrangement of an allele with regard to its neighboring alleles
Published	10/08/2024	Define linkage
Published	10/08/2024	The {{c1::closer}} 2 loci are to each other the longer they will persist in association
Published	10/08/2024	The closer 2 loci are to each other the {{c1::longer}} they will persist in association
Published	10/08/2024	What is linkage disequilibrium?
Published	10/08/2024	Define haplotype
Published	10/08/2024	Define genotype
Published	10/08/2024	Define phenotype
Published	10/08/2024	What three factors contribute to a phenotype?
Published	10/08/2024	The mitochondrial genome is comprised of {{c1::circular DNA }} and accounts for {{c1::0.0005}}% of the total genetic information in human cells.
Published	10/08/2024	The 13 polypeptides involved in oxidative phosphorylation encoded by mtDNA contains {{c1::no introns }}
Published	10/08/2024	Segregation of mitochondria during cell division is {{c1::random }}
Published	10/08/2024	The mutation rate of mtDNA is {{c1::10x}} that of nuclear DNA
Published	10/08/2024	Each cell may contain a heterogenous population of mtDNA; This phenomenon is called {{c1::heteroplasmy }}
Published	10/08/2024	What is the mtDNA bottleneck theory?
Published	10/08/2024	What is the threshold effect?
Published	10/08/2024	Define sequence variant
Published	10/08/2024	{{c1::DNA}} is the same in all cells, what varies is the {{c1::genes}} that are expressed
Published	10/08/2024	On average, an individual human genome exhibits {{c1::2-4 million}} variants relative to the reference genome
Published	10/08/2024	The alleles that are present at a given locus are the person's {{c1::genotype}} at that locus
Published	10/08/2024	Regulation of gene expression can be {{c1::spatial}} or {{c1::temporal}}
Published	10/08/2024	The amount of mtDNA expressed is regulated based on {{c1::energetic needs}}
Published	10/08/2024	Cytoplasmic mtDNA is inherited exclusively through the {{c1::maternal}} line
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