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  1. 1. CHROMOSOMES Chroma: C O L O U R Soma: Thread Chromosome: Colored thread (Takes up colour when stained) • Located in nucleus as nuclear material • Chromosomes seen in mitochondria and chloroplast are called organelle or extrachromosomal material • organized structure of DNA and protein that is found in cells. • contain DNA-bound proteins, which serve to package the DNA and control its functions.
  2. 2. PARTS OF A CHROMOSOME  Chromosome consists of two threads held together in by knot like structure  Each thread is called chromatid  The knot is called primary constriction or Centromere  The two threads of a single chromosome is called sister chromatid  The threads of pair of chromosome are called non sister chromatids • Secondary constriction lead to formation of satellite chromosome • The portions seen on either side of the centromere is called arms of the chromosome • One arm is called “p” or petite arm. • Other arm is called “q” or quadran arm • Chromosomes carry genes • Chromosomes is made of DNA, histones and non-histone proteins
  3. 3. CHROMOSOME NUMBER Number CONSTANT for a given species • Man • Mouse • Drosophila • Onion • 46/ 23 pairs • 44/ 22 pairs • 8/ 4 pairs • 16/ 8 pairs
  4. 4. CHROMOSOME NUMBER NUMBER OF SETS OF CHROMOSOMES – PLOIDY (n)  n – Monoploidy/ Haploidy  2n – Diploidy  3n – Triploidy  4n – Tetraploidy  5n – Pentaploidy  6n – Hexaploidy  7n - Heptaploidy
  5. 5. CHROMOSOME SIZE • In contrast to other cell organelles, the size of chromosomes shows a remarkable variation depending upon the stages of cell division. • Interphase: chromosome are longest & thinnest • Prophase: there is a progressive decrease in their length accompanied with an increase in thickness • Anaphase: chromosomes are smallest. • Metaphase: Chromosomes are the most easily observed and studied during metaphase when they are very thick, quite short and well spread in the cell. • Therefore, chromosomes measurements generally taken during mitotic metaphase. are
  6. 6. • Karyotype: is the general morphology of the somatic chromosome. Generally, karyotypes represent by arranging in the descending order of size keeping their centromeres in a straight line. • Idiotype: the karyotype of a species may be represented diagrammatically, showing all the morphological features of the chromosome; such a diagram is known as Idiotype.
  7. 7. • Essential cell biology, 2/e.(2004 Garland Science)
  8. 8. • Chromosomes may be identified by regions that stain in a particular manner when treated with various chemicals. • Several different chemical techniques are used to identify certain chromosomal regions by staining then so that they form chromosomal bands. • For example, darker bands are generally found near the centromeres or on the ends (telomeres) of the chromosome, while other regions do not stain as strongly. • The position of the dark-staining are heterochromatic region or heterochromatin. • Light staining are euchromatic region or euchromatin. • Heterochromatin is classified into two groups: (i) Constitutive and (ii) Facultative. • Constitutive heterochromatin remains permanently in the heterochromatic stage, i.e., it does not revert to the euchromatic stage. • In contrast, facultative heterochromatin consists of euchromatin that takes on the staining and compactness characteristics of heterochromatin during some phase of development.
  9. 9. SATELLITE DNA • Satellite DNA consists of highly repetitive DNA with very high frequency of adenine & thymine. Satellite DNA are of lower density hence when separated along with genomic DNA in a density gradient forms a satellite Band. • Its repeat length is several thousand Base pairs(Unit - 5-300 bp depending on species). • Satellite DNA are organized as large clusters upto 100 million Base Pairs in the heterochromatic region of chromosomes near centromeres & telomeres, these are also found abundantly on Y chromosome • Satellite DNA shows exceptional variability among individuals particularly with regard to the number of repeats at a given locus hence is the basis of most DNA typing systems used in Forensic medicine. • Satellite DNA are not transcribed into RNA • Do not have spacer sequences • Satellite DNA are located on 1, 9, 16 & Y chromosomes & tiny short arms of chromosomes 13-15 & 21-22. • .
  10. 10. TYPES OF SATELLITE DNA • SIMPLE SEQUENCE REPEATS or SIMPLE TANDEM REPEATS These are of 2 types: • Minisatellite • Microsatellite • TANDEM REPEATS
  11. 11. MINISATELLITES • A minisatellite (also referred as Variable Number Tandem Repeat, VNTR) is a section of DNA that consists of a short series of nucleobases (10–60 base pairs). These occur at more than 1,000 locations in the human genome. Structure: • "Minisatellites" consist of repetitive, generally GC-rich, variant repeats that range in length from 10 to over 100 base pairs. • Some minisatellites contain a central (or "core") sequence of letters “GGGCAGGANG” (where N can be any base) or more generally a strand base with Purines (Adenine (A) and Guanine (G)) on one strand and Pyrimidines (Cytosine (C) and Thymine (T)) on the other. • Application: minisatellites have been extensively used for DNA fingerprinting as well as forgenetic markers in linkage analysis and population studies.
  12. 12. MICROSATELLITES • Microsatellites, also known as Simple Sequence Repeats (SSRs) or Short Tandem Repeats (STRs), are repeating sequences of 2-6 base pairs of DNA. • It is a type ofVariable Number Tandem Repeat (VNTR). Microsatellites are typically codominant. They are used as molecular markers in STR analysis(Short tandem repeat (STR) analysis is a molecular biology method used to compare specific loci on DNA from two or more samples), for kinship, population and other studies. They can also be used for studies of gene duplication or deletion, marker assisted selection, and fingerprinting. • CA nucleotide repeats are very frequent in human and other genomes, and are present every few thousand base pairs. As there are often many alleles present at a microsatellite locus, genotypes within pedigrees are often fully informative. • In this way, microsatellites are ideal for determining paternity, population genetic studies and recombination mapping. It is also the only molecular marker to provide clues about which alleles are more closely related
  13. 13. TANDEM REPEATS • Located at telomeres & centromeres & may act as Protein binding sites. • Tandem repeats occur in DNA when a pattern of two or more nucleotides is repeated and the repetitions are directly adjacent to each other. • An example would be: • ATTCG ATTCG ATTCG---------> in which the sequence ATTCG is repeated three times. • When between 10 and 60 nucleotides are repeated, it is called a minisatellite. Those with fewer are known as microsatellites or short tandem repeats. • When exactly two nucleotides are repeated, it is called a dinucleotide repeat (for example: ACACACAC…). The microsatellite instability in hereditary nonpolyposis colon cancer most commonly affects such regions. • When three nucleotides are repeated, it is called a trinucleotide repeat (for example: CAGCAGCAGCAG…), and abnormalities in such regions can give rise to trinucleotide repeat disorders. • When the number is not known, variable, or irrelevant, it is sometimes called a variable number tandem repeat (VNTR).
  14. 14. USES • Tandem repeat describes a pattern that helps determine an individual's inherited traits. • Tandem repeats can be very useful in determining parentage. Short tandem repeats are used for certain genealogical DNA tests. • DNA is examined from microsatellites within the chromosomal DNA. Minisatellite is another way of saying special regions of the loci. Polymerase chain reaction (or PCR) is performed on the minisatellite areas. The PCR must be performed on each organism being tested. The amplified material is then run through electrophoresis. By checking the percentage of bands that match, parentage is determined. • In the field of Computer Science, tandem repeats in strings (e.g., DNA sequences) can be efficiently detected using suffix trees or suffix arrays. • Studies in 2004 linked the unusual genetic plasticity of dogs to mutations in tandem repeats
  15. 15. • Centromeres and telomeres are two essential features of all eukaryotic chromosomes. • Each provide a unique function i.e., absolutely necessary for the stability of the chromosome. • Centromeres are required for the segregation of the centromere during meiosis and mitosis. • Teleomeres provide terminal stability to the chromosome and ensure its survival
  16. 16. • The region where two sister chromatids of a chromosome appear to be joined or “held together” during mitatic metaphase is called Centromere • When chromosomes are stained they typically show a dark-stained region that is the centromere. • Also termed as Primary constriction • During mitosis, the centromere that is shared by the sister chromatids must divide so that the chromatids can migrate to opposite poles of the cell. • On the other hand, during the first meiotic division the centromere of sister chromatids must remain intact • whereas during meiosis II they must act as they do during mitosis. • Therefore the centromere is an important component of chromosome structure and segregation.
  17. 17. • As a result, centromeres are the first parts of chromosomes to be seen moving towards the opposite poles during anaphase. • The remaining regions of chromosomes lag behind and appear as if they were being pulled by the centromere.
  18. 18. • Within the centromere region, most species have several locations where spindle fibers attach, and these sites consist of DNA as well as protein. • The actual location where the attachment occurs is called the kinetochore and is composed of both DNA and protein. • The DNA sequence within these regions is called CEN DNA. • Typically CEN DNA is about 120 base pairs long and consists of several sub-domains, CDEI, CDE-II and CDE-III. • Mutations in the first two sub-domains have no effect upon segregation, • but a point mutation in the CDE-III sub-domain completely eliminates the ability of the centromere to function during chromosome segregation. • Therefore CDE-III must be actively involved in the binding of the spindle fibers to the centromere.
  19. 19. • The protein component of the kinetochore is only now being characterized. • A complex of three proteins called Cbf-III binds to normal CDE-III regions but can not bind to a CDE-III region with a point mutation that prevents mitotic segregation. • Chromosomes may differ in the position of the Centromere, the place on the chromosome where spindle fibers are attached during cell division. • In general, if the centromere is near the middle, the chromosome is metacentric • If the centromere is toward one end, the chromosome is acrocentric or submetacentric • If the centromere is very near the end, the chromosome is telocentric.
  20. 20. • The centromere divides the chromosome into two arms, so that, for example, an acrocentric chromosome has one short and one long arm, • While, a metacentric chromosome has arms of equal length. • All house mouse chromosomes are telocentric, while human chromosomes include both metacentric and acrocentric, but no telocentric.
  21. 21. Autosomal pair Sex chromosome Diploid No. of No. of X (2n) metacentrics acrocentric or telocentric Cat 38 16 2 M Dog 78 0 38 M Pig 38 12 6 M Goat 60 0 29 A Sheep54 3 23 A Cow 60 0 29 M Horse 64 13 18 M M – Metacentric; A – Acrocentric Y M A M M M M A
  22. 22. TELOMERE • The two ends of a chromosome are known as telomeres. • It required for the replication and stability of the chromosome. • When telomeres are damaged or removed due to chromosome breakage, the damaged chromosome ends can readily fuse or unite with broken ends of other chromosome. • Thus it is generally accepted that structural integrity and individuality of chromosomes is maintained due to telomeres. • McClintock noticed that if two chromosomes were broken in a cell, the end of one could attach to the other and vice versa. • What she never observed was the attachment of the broken end to the end of an unbroken chromosome. • Thus the ends of broken chromosomes are sticky, whereas the normal end is not sticky, suggesting the ends of chromosomes have unique features.
  23. 23. Species Repeat Sequence Arabidopsis TTTAGGG Human TTAGGG Oxytricha TTTTGGGG Slime Mold TAGGG Tetrahymena TTGGGG Trypanosome TAGGG Until recently, little was known about molecular structure of telomeres. However, during the last few years, telomeres have been isolated and characterized from several sp.
  24. 24. Tetrahymena - protozoa organism. • The telomeres of this organism end in the sequence 5'-TTGGGG-3'. • The telomerase adds a series of 5'TTGGGG-3' repeats to the ends of the lagging strand. • A hairpin occurs when unusual base pairs between guanine residues in the repeat form. • Finally, the hairpin is removed at the 5'-TTGGGG-3' repeat. • Thus the end of the chromosome is faithfully replicated. RNA Primer - Short stretches of ribonucleotides (RNA substrates) found on the lagging strand during DNA replication. Helps initiate lagging strand replication