Chapter 19 – Structure of Chromosomes and Genes




Abstract




The three parts of nucleotide are as follows:





Chapter 19 Structure of Chromosomes and Genes



Jane Ding



1 Structure of DNA/RNA


The three parts of nucleotide are as follows:




  1. 1. Nitrogen-containing bases:




    1. purine:




      1. fused nitrogen-containing ring



      2. include adenine and guanine




    2. pyrimidine:




      1. single nitrogen-containing ring



      2. include cytosine, thymine and uracil




    3. DNA: adenine, guanine, cytosine and thymine



    4. RNA: adenine, guanine, cytosine and uracil




  2. 2. Pentose (5-carbon sugar)




    1. DNA: deoxyribose



    2. RNA: ribose




  3. 3. Phosphate: linked to pentose by phosphodiester bond



2 Nucleotide




  • basic structural unit of DNA/RNA:




    1. DNA: 100 million nucleotides; double-stranded helix



    2. RNA: 100–1000 nucleotides, single stranded




  • triplet nucleotide = codon = produces a single amino acid:




    1. one amino acid can have several codons



    2. one codon can produce only one amino acid




  • two ends:




    1. five-prime end: phosphate attaches to C5 of pentose



    2. three-prime end: hydroxyl attaches to C3 of pentose




  • base pairing:




    1. A-T (two weak hydrogen bonds, DNA)



    2. C-G (three weak hydrogen bonds, DNA)



    3. A-U (three weak hydrogen bonds, RNA)




3 Types of RNA




  • messenger RNA (mRNA): carries codon



  • transfer RNA (tRNA): carries anticodon and single amino acid



  • ribosomal RNA (rRNA): assembles amino acids



4 DNA Replication




  1. 1. DNA double helix unwinds as helicase breaks down hydrogen bonds and forms replication fork



  2. 2. DNA polymerase adds nucleotides to the leading strand (oriented 3-prime to 5-prime)




    1. polymerase travels from 5-prime to 3-prime to form a new strand continuously




  3. 3. DNA polymerase adds nucleotides to lagging strand (oriented 5-prime to 3-prime)




    1. polymerase travels from 5-prime to 3-prime to form a new strand, but in segments (called Okazaki fragments)



    2. DNA ligase joins the Okazaki fragments together




  4. 4. This process is performed at many points on DNA simultaneously to save time



5 Process of DNA Synthesising Protein




  1. 1. Transcription: DNA is copied into mRNA



  2. 2. Gene splicing



  3. 3. Translation: mRNA translates into amino acids into protein



  4. 4. Protein structure formation



  5. 5. Posttranslational modification



6 Transcription




  1. 1. DNA strands unwind, and the DNA template strand opens up



  2. 2. RNA polymerase adds nucleotides from 5-prime to 3-prime onto coding strand




    1. uracil replaces thymine in the process




  3. 3. DNA strands reanneal after mRNA is released



  4. 4. This process is performed at many points on DNA simultaneously



7 Gene Splicing




  • removes introns (noncoding sequences) and joins exons (protein-coding sequences)



  • alternative splicing: single gene translated into many proteins with different functions



8 Translation




  1. 1. tRNA carries anticodon to pair onto codon on mRNA



  2. 2. tRNA releases amino acid as anticodon attaches to codon



  3. 3. Ribosome (containing rRNA + proteins) carries the growing polypeptide and releases rRNA



  4. 4. Ribosome falls off after polypeptide completed



  5. 5. This process occurs at many points on mRNA simultaneously to save time



9 Protein Structure Formation




  1. 1. Primary structure: initial polypeptide strand



  2. 2. Secondary structure: folding into chains (alpha chain) or sheets (beta sheet) via hydrogen bonds



  3. 3. Tertiary structure: folding into final structure via hydrophobic interaction + disulphide bonds



  4. 4. Quaternary structure: multiple polypeptides combine into multimeric proteins



10 Posttranslational Modification




  • acetylation (add acetyl group): affects lifespan of protein



  • phosphorylation (add phosphate group): affects activity of protein



  • glycosylation (add carbohydrate chain)



11 Chromosome




  • cells and number of chromosomes:




    1. somatic cells (most of the body): 46 chromosomes or 23 pairs (diploid); identical in body



    2. germ cells or gametes (ovum and sperm only): 23 chromosomes (haploid); nonidentical due to recombination



    3. autosome: first 22 pairs (numbered 1–22); numbering based on decreasing chromosome length



    4. sex chromosomes: twenty-third pairs are X and Y: XX (female), XY (male)




  • shape of chromosomes




    1. short arm of chromosome: p arm



    2. long arm of chromosome: q arm



    3. metacentric chromosome: short and long arm equal length (centromere near middle of the chromosome)



    4. submetacentric chromosome: one arm longer than the other (centromere closer to one side of the chromosome)



    5. acrocentric chromosome: one arm much longer than the other (centromere at top of the chromosome)



    6. isochromosome chromosome: unbalanced, with duplication of the arms, which are mirror images resulting in two copies of either the long arm or the short arm (simultaneous duplication and deletion of genetic material)



    7. chromatid: single strand of a chromosome (chromosomes in somatic cells come in pairs)



    8. centromere: special DNA sequence where the two sister chromatids link



    9. telomere: repetitive nucleotides at the end of chromosomes; protects end of chromosome (like plastic tips on shoelaces)



    10. histone: protein that DNA wraps around to condense into chromosomes (like spools for thread)




12 Genes




  • definition: stretch of DNA sequence, which codes for a specific protein



  • human genome: 20 000 genes




Table 19.1 Cell division

























Stage Description
Interphase


  • Gap 0 (G0): quiescent phase



  • Gap 1 (G1): cell growth, protein production



  • S phase: DNA replication



  • Gap 2 (G2): cell growth, protein production

Prophase Chromosomes condense
Metaphase Mitotic spindles captures all chromosomes aligned at centre of cell
Anaphase Sister chromatids separate from each other to opposite poles
Telophase


  • Nuclear envelop breaks down and reforms around daughter chromosomes



  • Cytokinesis occurs: cytoplasm division to form daughter cells



13 Mitosis




  • occurs in somatic cells



  • the aim is to produce identical diploid cells for cell reproduction



  • cytokinesis: the process of division into two cells; occurs in anaphase and telophase (see Table 19.1)



1 parent cell (23 pairs of chromosomes) [2 n] → 1 parent cell duplication → each paired chromatid separates to each daughter cell → 2 identical daughter cells (each with 23 pairs of chromosomes) [2 n + 2 n]



14 Meiosis




  • occurs in germ cells (gametes) only



  • the aim is to produce haploid cells, so that after fertilisation there will be 46 chromosomes (instead of 92 chromosomes)



  • meiosis I and meiosis II



14.1 Meiosis I


[n = haploid, 2 n = diploid]



1 parent cell (23 chromosomes) [n] → 1 parent cell duplication + recombination [2 n] → each paired chromatid moves into each daughter cell → 2 nonidentical daughter cells (each with 23 chromosomes) [n + n]



14.2 Meiosis II



2 nonidentical daughter cells (each with 23 chromosomes) [n + n] → splitting of paired chromatids into single chromatids, which moves into each final daughter cell → 4 nonidentical final daughter cells (each with 23 chromosomes) [n + n + n + n]



15 Spermatogenesis




  • produces four spermatozoa



Spermatogonium [n] → primary spermatocyte [2 n] → secondary spermatocyte (end of meiosis I) [n + n] → spermatids (end of meiosis II) [n + n + n + n] → spermatozoa (after differentiation) [n + n + n + n]



16 Oogenesis




  • produces one ovum and three polar bodies



  • polar bodies cannot fertilise (see Table 19.2)




Table 19.2 Stages in oogenesis















Oogenesis Arresting stage
Primary oocyte Prophase I (until puberty)
Secondary oocyte Metaphase II (until fertilisation)


Oogonium [n] → primary oocyte [2 n] → secondary oocyte + 1 polar body (end of meiosis I) [n + 1 polar body] → secondary oocyte + 3 polar bodies (end of meiosis II) [n + 3 polar bodies] → ovum + 3 polar bodies (after differentiation) [n + 3 polar bodies]



17 Chromosome and Gene Abnormalities


See Table 19.3.




Table 19.3 Chromosomal and gene abnormalities













Chromosomal abnormalities Gene abnormalities



  • Nondisjunction



  • Translocation




    1. Reciprocal



    2. Robertsonian




  • Microdeletion




  • Missense mutation



  • Truncating mutation: frameshift, nonsense



  • Splice site mutation



  • Whole gene deletion



  • Partial gene deletion: exon deletion



  • Triplet repeat expansion



18 Nondisjunction


See Tables 19.4, 19.5 and 19.6.




  • due to mistake in meiosis I or meiosis II



  • leads to trisomy and monosomy



  • risk increases with maternal age




Table 19.4 Nondisjunction
























Meiosis I Meiosis II
Mistake Uneven spreading of homologous chromosomes One pair of homologous chromosomes did not split
End of meiosis I


  • Daughter cell 1: 3 homologous split pairs



  • Daughter cell 2: 1 homologous split pair




  • Daughter cell 1: 1 homologous unsplit pair, 1 homologous split pair



  • Daughter cell 2: 1 homologous split pair

End of meiosis II


  • Final daughter cell 1: 3 chromosomes



  • Final daughter cell 2: 3 chromosomes



  • Final daughter cell 3: 1 chromosome



  • Final daughter cell 4: 1 chromosome




  • Final daughter cell 1: 3 chromosomes



  • Final daughter cell 2: 1 chromosome



  • Final daughter cell 3: 2 chromosomes



  • Final daughter cell 4: 2 chromosomes




Table 19.5 Age and risk of nondisjunction































Age Risk
20 1/1500
30 1/900
34 1/500
36 1/300
40 1/100
42 1/60
45 1/30

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Dec 29, 2020 | Posted by in GYNECOLOGY | Comments Off on Chapter 19 – Structure of Chromosomes and Genes

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