Definitions for Molecular Genetics

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Biology Flashcards on Definitions for Molecular Genetics, created by Paulina Smith on 17/09/2019.
Paulina Smith
Flashcards by Paulina Smith, updated more than 1 year ago
Paulina Smith
Created by Paulina Smith over 4 years ago
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DNA A protein which codes for specific RNA
chromosome unit of DNA which carries many genes... ea. consists of a very long molecule of duplex DNA and an approx. equal mass of proteins
homologous chromosomes occur at the same loci on accompanying chromosomes
gene locus location of the specific gene in question
allele one or more forms of a gene (mutated) found at the same locus (A + a)
locus a particular "address" on a gene
intergenic DNA Regulatory DNA (often doesn't code for anything). Exists between genes
centromere point at center of chromosomes where spindles attach (anaphase)
telomere the ends of chromosomes; relate to duplication
haploid genome one copy
diploid genome complete DNA valid for reproduction (2 copies)
linked genes typically co-occurring on a single chromosome
unlinked genes segregate independently
homozygous same alleles at any given locus
heterozygous opposite alleles at any given locus
linked genes tend to be inherited together as a result of their location on the same chromosome
homologs similar DNA sequences
avirulent not harmful to host
virulent cannot be combated by host's immune system
nucleotide nucleoside + phosphate group
insertions addition; transposable elements can revert
deletions removal of nucleotides; not reversible
large chromosome aberrations (name 3) chromosome double strand breaks due to irradiation, unequal crossing over during meiotic recombination, and homologous recombination between repeat regions ON same chromosome
ORF- open reading frame start codon, AUG (methianine) and stop codon. (Sequence of DNA consisting of triplets that can be translated into amino acids.)
haplo-insufficiency a dominant phenotype in diploid organisms that are heterozygous for a loss-of-function allele
loss-of-function mutations usually recessive, null mutation/amorphic allele = nonfunctioning protein
hypomorphic mutations causes a partial loss of gene function. A hypomorph is a reduction in gene function through reduced (protein, RNA) expression or reduced functional performance, but not a complete loss
gain-of-function mutations usually dominant, hypermorphic, neomorphic (new function)
gene fundamental unit of heredity, DNA sequence that codes for a specific cellular product (RNA or polypeptide)
complementation mutations are in different genes (neither mutation expressed)
fail to complement mutant offspring because mutations are in the SAME GENE
point mutations affect only one base
transitions purine to purine / pyrimidine to pyrimidine
transversions purine to pyrimidine / pyrimidine to purine
missense mutation point mutation in which a single nucleotide change results in a codon that codes for a different amino acid
nonsense mutation point mutation in a sequence that results in a premature stop codon
pathogenicity islands DNA segments present in pathogenic bacterial genomes but absent in their nonpathogenic relatives
horizontal transfer transfer of DNA from one cell to another by a process other than cell division, such as bacterial conjugation
c-value term used to describe amount of DNA content in terms of number of nucleotides per haploid genome
orthologous genes related genes in diff. species
synonymous mutation a change in DNA sequence coding region that does not alter the amino acid that is encoded
non-synonymous mutation a change in DNA sequence coding region that alters the amino acid that is encoded
pseudogenes inactive but stable portions of the genome derived by mutation of an ancestral active gene, usually inactive due to mutations that block translation, transcription, or both.
processed pseudogenes result from reverse transcription and integration or mRNA transcripts
nonprocessed pseudogenes result from incomplete duplication or second-copy mutation of functional genes
transposons/jumping genes can copy + paste or cut + paste to different loc. within the genome
mRNA Has ONLY EXONS. the intermediate that represents one strand of a gene coding for polypeptide. Its coding region is related to the polypeptide sequence by the genetic code.
satellite DNA consists of many tandem repeats (identical or related) of a short, basic repeating unit; important for packing of DNA in heterochromatin region. Diff btwn indiv. is basis for DNA forensics!
complex satellite length > 100bp
minisatellite 10bp < length < 100bp
microsatellite length < 10bp
haplotype a large stretch of a chromosome and all the genes, repeats, and polymorphisms contained in the DNA sequence
packing ratio Ratio of the length of DNA to the unit length of fiber containing it.
chromatin DNA and the proteins it is wrapped around
capsid the external protein coat of a virus particle
euchromatin light in color, open. USED DURING TRANSCRIPTION
heterochromatin dark, closed. constitutive = always highly condensed (like telomeres and centromeres) facultative = sometimes converted from highly packed form to euchromatin state
g-bands staining which causes the chromosomes to appear with striations
chromosome locus numbering system count out in either direction from centromere. smaller arm is p (petite), larger is q.
kinetochore proteins this is where microtubules attach before attaching to the centromere
acentric fragment a fragment of a chromosome (by breakage) that lacks a centromere and is lost at cell division
nucleosome basic structural subunit of chromatin, ~200bp of DNA and an octamer of histone proteins
histone tails flexible or amino- or carboxy-terminal regions of the core histones that extend beyond the surface of the nucleosome
linker histones a family of histones (such as histone H1) that are not components of the nucleosome core
30nm fiber a coil of nucleosomes (width)
non-histone any structural protein found in a chromosome that is NOT a histone
suppressor mutation a second mutation in a different gene that compensates for the primary mutation
second-site reversion a second mutation in the same gene that compensates for the primary mutation
antimorphic mutation the newly-acquired function is against old activity
pleiotropic genes genes which code for a polypeptide with more than one function
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