Anth 460 Exam 1

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where mtDNA is found in organism

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in cytoplasm of cells, not nucleus

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DNA end cap

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telomere

Front 3

internal structures of chromosomes that are used in cell division

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centromere

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a specified place in a standardized genome

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locus

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a part of DNA containing a unit of sequence based biological function

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gene

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change in gene expression due to environmental factors, not by changes in DNA structure

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epigenetic

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how are chromosomes numbered

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according to decreasing length. 1 is longest, 22 is shortest

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share common evolutionary ancestry, carry matching genetic info, same gene loci in same order

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homologous chromosomes or homologues

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two chromosome arms are same length

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metacentric

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p arm of chromosome is short

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acrocentric

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uses specific DNA segments labeled with flourescent dye to reveal anomolies

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FISH, flourescence in situ hybridization

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used for diagnosing chromosomal anomolies; different tags used for regionson each chromosome, and pattern appears as different colors, called chromosome painting

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SKY: spectral karyotyping

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class of DNA: regular genes, regulatory genes, not/unknown functional DNA

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single-copy DNA sequences

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class of DNA: micro, mini, or just plain satellite DNA; clustered tandem repeats of short DNA; copies are adjacent to each other on chromosome

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tandemly repetitive DNA

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class of DNA: copied from one place in the genome and inserted elsewhere; copies located all over the genome

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dispersed repetitive DNA

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a form of structural variation in the genome and refers to differences in the number of copies of a particular region in the genome

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Copy Number Variation

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this much of genome is single copy DNA

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50%

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how do single copy and repetitive DNA sit in regards to each other in the genome

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single copy is found in short regions, interspersed with repetitive DNA

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where minisatellites found

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anywhere on chromosome

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where microsatellites found

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near centro and telomeres

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171 bp repeat near human centromeres

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alphoid satellites

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short, highly repetitive DNA with high GC content

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minisatellite

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simple repeat sequence DNA, about 2-6 base pair repeat unit, AKA STR

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microsatellite

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are microsatellites heterozygous or homozygous

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many have high heterozygosity, meaning most individuals have different alleles on their two copies of microsatellite locus

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how do copy number variations arise?

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slippage errors in replication

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two classes of dispersed repetitve DNA

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SINES-90-500 bp
LINES-up to 7 kb

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sequences of DNA that can move around to different positions within the genome of a single cell

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transposons

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how do retrotransposons work

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they are in DNA, make RNA copies, and then reverse copy back into DNA that reinserts elsewhere in genome

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how do transposons work

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make and insert copies without going through an RNA intermediate

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length of repeat elements

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Lines 6-8kb
sines 100-300 bp
retrovirus-like elements - 6-11 kb
dna transposon copies 2-3 kb

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highly repetitive dna found here

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near centromere and telomere

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inversion including the centromere

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paricentric

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inversion not including the centromere

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paracentric

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two nonhomologous chromosomes exchange material

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translocation

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translocation where everything is still present, positions are just switched; causes trouble in alignment during meiosis, offspring have duplications or deletions

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balanced translocation

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monosomy x

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turner syndrome

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xyy syndrome

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delayed mental maturation, somewhat taller, more active; once thought to be a criminal genotype

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XX..Y

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Klinefelter's syndrome: somewhat feminized physical appearance of gonadally normal males, slightly delayed maturation

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mutation with no change in AA structure

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synonymous mutation

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mutation with change in AA structure

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nonsynonymous mutation

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nonconservative or conservative AA substitution

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missense mutation

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single base insertion causing frame shift and premature termination

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nonsense mutation

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inactivated genes

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pseudogenes

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CpG to TcG

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deamination of C to T especially at methylated sites. C to U is usually caught, but if methylated, U becomes T

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transcription factors on the same chromosome

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cis-regulatory factors

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the region of mRNA that is not translated into amino acid sequence. Can be 5’ or 3’ and have a variety of functions.

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UTR

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the greater the specificity of the function of a gene,

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the less variable a genome region is

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Basic categories of relationship or ‘states of being’, or kinds of things

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ontology

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a system of categorizing gene function in three basic ways: Molecular Function, Biological Processes, and Cellular Components

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gene ontology