Chapter Eleven: Genome Annotation Flashcards
the process of determining which sequences do which tasks, key aspect of the human genome project
annotation
a reading frame uninterrupted by stop codons
open reading frame
DNA can be read in ___ reading frames
six (three from each strand due to codon length)
comparing genomes can help track ___ (the process of advantageous mutations spreading in a population while deleterious mutations are lost)
natural selection
locating ___ is a direct method of finding genes
transcribed regions
genes either encode ___ or ___
proteins or non-coding RNAs (ncRNAs)
for mRNA, RNA can be made into ___ for sequencing
cDNA
virus that carries genetic information as RNA
retroviruses
used to copy RNA into complementary DNA (cDNA)
reverse transcriptase
includes only exons from part of genome that was transcribed for translation in cells mRNA was collected from
cDNA library
___ means a single gene can produce different proteins
alternative splicing
all proteins made in an organism
proteome
part of the genome corresponding to exons
exome
the exome makes up about ___ of genome, the remainder is made up of ___
1.5-2%
introns, centromeres, telomeres, transposable elements, etc.
variation in genome size is mostly due to ___ rather than ___ number or size
noncoding DNA
gene
exome sequencing is ___ than sequencing the entire genome
more efficient
most of DNA outside of genes is ___
repetitive
repetitive DNA with no known function
junk DNA
chromosomal regions that have many more genes than expected from average gene density over entire genome
gene-rich regions
the most gene rich region in the human genome
major histocompatibility complex
chromosomes regions with no identifiable genes
gene deserts
segments of proteins that have specific functions
domains
exons often encode ___
protein domains
shuffling, addition, or deletion of exons during evolution can create new ___
domain architectures
exon ___ can create new genes
shuffling
groups of genes closely related in sequence and function
gene families
the process by which gene families evolved
duplication and divergence
arose from the same gene in the common ancestor, usually retain the same function
orthologous genes
arise by duplication, often refers to members of a gene family
paralogous genes
blanket term for all evolutionary related sequences
homology
sequences that look like, but do not function as, genes
pseudogenes
pseudogenes rapidly accumulate ___
mutations
genes without homologs, young genes that recently evolved from ancestral intergenic sequences
de novo genes
homologous blocks of chromosomal sequence
syntenic blocks
the cutting and reassembling of chromosomal blocks accompanying evolutionary divergence
chromosomal rearrangements
the science of using computational methods to decipher biological meaning of information contained in organismal systems
bioinformatics
database established by the NIH in 1982, online repository of sequence data
GenBank
single, complete, annotated version of a species’ genome, agreed upon for standard comparison
RefSeq
carries oxygen in the blood
hemoglobin
adult hemoglobin consists of ___ peptide chains
four (two alpha and two beta)
composition of hemoglobin ___ during development
changes
embryonic and fetal hemoglobins bind ___ to oxygen
more tightly
adult hemoglobin binds ___ to oxygen
less tightly
the order of hemoglobin genes on the chromosome reflects ___
timing of expression
controls sequential expression of genes at a locus, including goblin genes
locus control region (LCR)
change in amino acid sequence of alpha- or beta-globing chain, causes destruction of RBCs
hemolytic anemia
mutations reduce or eliminate production of one of the two global polypeptides
thalassemias
mutations of the ___ can lead to severe disease
LCR
