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Intron
segment of DNA that is transcribed, but later removed from within the transcript by spicing together the sequences
RNA splicing
process of excising introns from RNA and connecting the exons into a continuous mRNA
primary RNA transcript
original unmodified RNA product corresponding to a transcription unit
Mature transcript
modified RNA transcript; modification may include the removal of intron sequences and alterations to the 5’ and 3’ ends
Exons
any part of a gene that will form a part of the final mature RNA produced by that gene after RNA splicing
region of the gene
length of precursor RNA
what separates individual coding regions?
genes
what does exon mutations effect?
polypeptide sequence
what does intron mutations effect?
RNA processing which may influence the sequence and/ or production of a polypeptide
does order of exons differentiate in genomic DNA and mRNA?
no
are the distances along the gene the same between genomic DNA and mRNA?
no
does base composition differ between introns and exons?
yes
is organization of exons maintained?
yes
cDNA
single-stranded DNA complementary to an RNA, synthesized from it by reverse transcription in vitro
does complementary DNA contain introns?
no
is the positions of introns usually conserved?
yes
can lengths of the introns that correspond to the exons vary?
yes
negative selection
mutations are deleterious
positive selection
mutations are benifital (i.e individual is able to produce more fertile progeny)
are exons usually conserved?
yes
why do introns evolve much more rapidly than exons?
less selective pressure to produce a functional polypeptide
overlapping gene
part of its sequence is found within part of the sequence of another gene
truncated protein
part of a full protein
alternative start
still starts at AUG but different spot
alternative splicing
certain exons are included or excluded in the mature mRNA- polypeptides differ by the presence or absence of certain regions
can the same pre-mRNA generate two different proteins?
yes
what percent of human genes are alternatively spliced?
95%
domains
independent functional protein modules
gene family
set of genes within a genome that encodes related or identical proteins or RNAs
what are gene families derived from?
duplication of an ancestral gene, followed by accumulation of changes in sequence between copies
KLF (kruppel-like factors)
gene family in humans
homologous genes (homologs)
share common features that preceded their evolutionary separation