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Human Genetics > Lecture 14: Specialized Chromosome Structure Sequences > Flashcards

Lecture 14: Specialized Chromosome Structure Sequences Flashcards

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1
Q

Human telomere sequence is.. and how many repeats at birth

A

TTAGGG -2500

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2
Q

Centromere is essential for

A

Chromosome separation

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3
Q

T or F: G strand sequence is longer than C strand on telomere sequence

A

True - G strand is longer

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4
Q

Which strand of the telomere folds over to from T loop

A

G rich strand

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5
Q

Shortened telomere sequences are linked to

A

Shorter life span and increased disease. Specifically restricted cell proliferation/tissue degeneration - CARDIOVASCULAR DISEASE

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6
Q

Lead and telomeres

A

Lead exposure leads to shortened telomeres

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7
Q

Longer telomeres effect

A

Increase risk related to increased PROLIFERATVE growth, including major CANCERS

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8
Q

Centriole

A

Small cylindrical organelle, located near nucleus, divides in perpendicular fashion during mitosis

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9
Q

What is the primary sequence at human centromeres

A

Alpha satellite DNA in tandem head-tail fashion

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10
Q

What is the predominate form of alpha satellite DNA

A

Complex high order sequences (HORs)

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11
Q

What is crucial for centromere/kinetochore assembly/function during cell division

A

Transcription of Alpha satellite DNA

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12
Q

What is at the core of the kinetochore/centromere and it is surrounded by what

A

Centromere-specific histone H3 variant CENP-A

Surrounded by heterochromatin

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13
Q

What links together centromeric chromatin

A

Cohesin

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14
Q

What happens if a chromosome break occurs near centromere and one fragment does not get a centromere

A

That piece of DNA is usually lost from the nucleus

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15
Q

Histones are ___ charged

A

Positively

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16
Q

Nucleosome core of histone is comprised of

A

Two H2A-H2B dimers

H3-H4 Tetramer

17
Q

Nucleosome

A

Basic unit of DNA packaging

Segment of DNA wound in sequence around 8 core histone proteins (DNA wraps around each 1.65 times)

18
Q

Chromatosome

A

A histone octamer, one molecule of linker histone, and 166BP of DNA.

19
Q

Linker DNA

A

Double stranded DNA b/w two nucleosome cores, that, in association with Histone H1, holds the cores together

20
Q

High order chromatin structure

A

30nm fiber
300nm loops
250nm wide fiber

21
Q

What is the fundamental repeating unit of chromatin

A

Nucleosome

22
Q

Polytene chromosome created by

A

Repeated rounds of DNA replication w/o cell division

23
Q

Chromosomal puffs

A

Regions of relaxed chromatin where active transcription is taking place

24
Q

Does chromatin structure change during the course of transcription? How would we know?

A

Yes it does. Shown but the fact that DNA’s sensitivity to be degraded by DNAse I is correlated with gene expression

25
Q

Epigenetics

A

A heritable alteration of phenotype because of altered chromatin structure (histone modification, acetylation)

26
Q

Unique sequence DNA

A

Similar but not identical copies of unique DNA sequences that arose through duplication of an existing gene

27
Q

Repetitive DNA

A

Stretches of DNA that repeat themselves throughout a genome, in tandem or interspersed along the genome.

28
Q

Alu element

A

Short interspersed elements: SINEs

29
Q

Moderately repetitive DNA length

A

150-300bp long

30
Q

Highly repetitive DNA length

A

Less than 10bp

31
Q

Microsatellite DNA

A

(Short Tandem Repeats)
Tract of tandemly repeated (adjacent) DNA motifs thtat range in length from 2-5 nucleotides, and are typically repeated 5-50 times. TATATATA is an example of a dinucleotide microsatellite

32
Q

What can microsatellite DNA be used for

A

Mapping locations within the genome

33
Q

STR sequencing project

A

Initiated to facilitate the description of sequence based alleles at the STR loci

Human Genetics (13 decks)

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