chapter Flashcards
architectural planning
noncoding regions
what are thefive major classes of functional non–protein- coding sequences in the human genome
1.Promoter and enhancer
2.Noncoding regulatory RNAs
3.telemeres and centromeres
4.Mobile genetic elements/transposons
5.chromatin structures
percentage of human genome that does not encode proteins
dark matter, 1.5%
Noncoding regulatory RNAs
micro-RNAs (miRNAs) and long noncoding RNAs (lncRNAs)
A major component of centromeres
satellite DNA
The two most common forms of DNA variation in the human genome are
single nucleotide polymorphisms (SNPs) and copy number variations (CNVs)
are variants at single nucleotide positions and are almost always biallelic
SNPs
Heterochromatin
dense, inactive
Euchromatin
disperse and active
are repetitive nucleotide sequences that cap the termini of chromatids and permit repeated chromosomal replication without deterioration of genes near the ends.
telomeres
can be visualized only during mitosis
Chromosomes
act as the locus for the formation of a kinetochore protein complex that regulates chromosome segregation at metaphase
centromeres
are noncoding regions of DNA that initiate gene transcription; they are on the same strand and upstream of their associated gene
Promoters
can modulate gene expression over distances of 100 kb or more by looping back onto promoters and recruiting additional factors that drive the expression of pre–messenger RNA (mRNA) species
Enhancers
may be useful markers if they
happen to be coinherited with a disease-associated polymorphism as a result of physical proximity
SNPs
are a form of genetic variation consisting of different numbers of large contiguous stretches of DNA
CNVs
heritable changes in gene expression that are not caused by variations in DNA sequence
epigenetics
T/F
alterations in DNA sequence cannot by themselves explain the diversity of phenotypes in human populations
True.
e.g. classic genetic inheritance cannot explain differing phenotypes in monozygotic twins
differentiated cells have distinct structures and functions that arise as a result of lineage- specific gene expression programs. Such cell type–specific differences in transcription and translation depend on
epigenetic factors
_______consist of DNA segments 147 bp long that are wrapped around a central core structure of highly conserved low molecular weight proteins called ________
nucleosome, histone
T/F
only the regions that are “unwound” are available for transcription
True
T/F
Histones are static
False. Histones are not static, but rather are highly dynamic
covalent alterations
methylation, acetylation, or phosphorylation
carry out over 70 different histone modifications generically denoted as “marks.”
Chromatin writer” complexes