organisation of the human genome II

Question 1

the most changed chromosome is the

Answer 1

Y

Question 2

FOXP2 gene

Answer 2

reading/writing gene

Question 3

MYH16

Answer 3

myosin variant in jaw muscles, found in all primates but humans

Question 4

protein domain DUF1220

Answer 4

higher cognitive function of brain

Question 5

HACNS1

Answer 5

active in hands, feet, throat

Question 6

what are the highly repetitive DNA portions

Answer 6

constitutive heterochromatin (7%) and transposon repeats (40%)

Question 7

transposon

Answer 7

is a small piece of DNA that inserts itself into another place in the genome, they can move by cut and move or copy and move

Question 8

what are the 4 classes of transposons

Answer 8

• retrotransposons like LINES, SINES, LTR-containing retrovirus like elements, and class II - DNA transposons

Question 9

DNA transposons

Answer 9

have terminal inverted repeats and encode a transposase that regulates transposition, 3%, they are o longer active

Question 10

retrotransposons

Answer 10

are mobile elements that transpose through an RNA intermediate, it makes a copy of cDNA which integrates itself into another position in the genome

Question 11

what are the 2 kinds of retrotransposons

Answer 11

• autonomous: if they contain the coding sequence for the reverse transcriptase
• non-autonomous: if they do not have the coding sequence for the reverse transcriptase

Question 12

LINES

Answer 12

• are successful transposons
• are up to 7 Kb long
• autonomous
• LINE1-LINE2-LINE3
• 21% of genome
• are found in euchromatin areas in the dark AT rich G bands of metaphase chromosomes
• contain an internal promoter

Question 13

SINES

Answer 13

• 100-400 bp in length
• non autonomous
• 13% of genome
• they share their mobile ends with LINES, they can be mobilized by lines
• Alu repeats
• present only in primates
• they derive from 7SL RNA