Architecture of the Human Genome Flashcards
1) How many genes are encoded on the mitochondrial genome?
2) What do those genes code for?
1) 37 genes
2) 2 ribosomal RNA, 22 transfer RNA, 13 oxidative phosphorylation proteins.
1) How many strands of DNA are in the D-loop?
2) How many copies of mitochondrial DNA reside in the mitochondrial matrix in: (i) normal cells, (ii) oocytes?
1) Three strands (heavy strand, light strand, 7S DNA)
2) (i) 1,000 - 10,000 (ii) 100,000
1) Maternally Inherited Diabetes and Deafness (MIDD) is most common in which country?
2) Mutations in what mitochondrial genes cause MIDD?
3) What do those genes code for?
1) Japan
2) MT-TL1, MT-TK, MT-TE
3) they code for tRNA and the mutations cause a reduction in their activity.
1) How many base pairs were sequenced at a time during the Human Genome Project (HGP)?
2) What were the steps?
1) ~500 bp.
2) These were fragmented to 500 bp and then incorporated into bacterial artificial chromosomes which formed a plasmid DNA library which were then sequenced where a computer recognized overlapping sequences.
1) What percentage of the Nucleic DNA encodes proteins?
2)What are the two most common categories of dispersed repetitive DNA?
1) <1.5%
2) Short Interspersed Nuclear Elements (SINES) and Long Interspersed Nuclear Elements (LINES)
Roughly how many:
1) protein encoding genes are there?
2) Non-coding genes?
3) Pseudogenes?
1) ~20,000
2) (17,700 - 23,300)
3) ~15,000
What percentage of human DNA is:
1) Single-copy
2) Dispersed Repetitive
3) Satellite
1) 45%
2) 45%
3) 10%
What type of satellite DNA:
1) Is found near centromeres and can be 171 - 12,000,000 base pairs long?
2) Has repeating units 1- 10 base pairs long and whose total length is less than 100 bp?
3) Is made of blocks of tandem repeats >11 bp whose total length is a few thousand bp?
4) Which two satellite DNA types are best for forensic identification?
1) Alpha - Satellite
2) Microsatellites
3) Minisatellites
4) Microsatellites and Minisatellites because they are highly variable between individuals.
What kind of dispersed repetitive DNA family:
1) consists of ~ 5% of the genome?
2) Is does the Arthrobacter luteus (Alu) restriction endonuclease belong to?
3) Has members that can be as long as 6,000 bp?
1) Segmental duplication family
2) Short Interspersed Nuclear Element (SINE)
3) Long Interspersed Nuclear Element (LINE)
What is one way Alu sequences and LINEs cause genetic disease?
Alu sequences and LINEs can copy and insert themselves into other parts of the genome such as in a protein-coding genes, creating a harmful mutation.
1) Roughly how many base pairs are in the human genome?
2) Order the levels of DNA packaging:
Chromatin Loops
Nucleosome
Chromosomes
Histone
Solenoid
1) ~3,000,000,000
2) Histone -> 8 -> Nucleosome -> 6 -> Solenoid -> Chromatin Loops -> Chromosomes
True or False:
1) p is the short arm, while the q is the long arm
2) Chromosome 3 has the third largest number of genes per chromosome
3) at metaphase, a somatic cell has 2n and 4c
4) During G1, a somatic cell has 1n and 2c
1) True
2) False, chromosome 3 has the third largest number of base pairs, but chromosome 19 has the third largest number of genes per chromosome.
3) True
4) False, during G1 (before DNA duplication) a somatic cell has 2n and 2c
1) What is a meiotic nondisjuction event?
Using n and c, describe the 4 gametes resulting from a nondisjunction occurring during:
2) meiosis I
3) meiosis II
1) When a pair of sister chromatids or homologous chromosomes fail to separate when traveling to opposite poles. This results in cells with an abnormal number of chromosomes.
2) 50% 2n 2c 50% 0n 0c
3) 50% 1n 1c 25% 1n 2c 25% 0n 0c
1) Where is the single point mutation that causes lactase persistence located?
1) on Chromosome 2, 14,000 bp away from the lactase gene where a C is changed to a T
