Scribd Logo
Upload

Welcome to Scribd!

  • 102 views

    Chromosomes: Magdalena F. Natividad, PHD Dean, School of Medical Lab Science Feu-Nrmf

    Uploaded by

    Charm Angeles
    The document discusses chromosomes, which carry genes and are composed of DNA packaged around proteins. It describes how chromosomes are organized and packaged within cells, and characterizes human chromosomes in terms of number, structure, and sex chromosomes like the X and Y. The document also explains chromosome mapping, X-inactivation which occurs in females, and differences between the X and Y chromosomes.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd

    Chromosomes: Magdalena F. Natividad, PHD Dean, School of Medical Lab Science Feu-Nrmf

    Uploaded by

    Charm Angeles
    102 views24 pages
    The document discusses chromosomes, which carry genes and are composed of DNA packaged around proteins. It describes how chromosomes are organized and packaged within cells, and characterizes human chromosomes in terms of number, structure, and sex chromosomes like the X and Y. The document also explains chromosome mapping, X-inactivation which occurs in females, and differences between the X and Y chromosomes.

    Original Title

    2021 Chromosomes

    Copyright

    © © All Rights Reserved

    Available Formats

    PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    The document discusses chromosomes, which carry genes and are composed of DNA packaged around proteins. It describes how chromosomes are organized and packaged within cells, and characterizes human chromosomes in terms of number, structure, and sex chromosomes like the X and Y. The document also explains chromosome mapping, X-inactivation which occurs in females, and differences between the X and Y chromosomes.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    102 views24 pages

    Chromosomes: Magdalena F. Natividad, PHD Dean, School of Medical Lab Science Feu-Nrmf

    Uploaded by

    Charm Angeles
    The document discusses chromosomes, which carry genes and are composed of DNA packaged around proteins. It describes how chromosomes are organized and packaged within cells, and characterizes human chromosomes in terms of number, structure, and sex chromosomes like the X and Y. The document also explains chromosome mapping, X-inactivation which occurs in females, and differences between the X and Y chromosomes.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    of 24

    CHROMOSOMES

    Magdalena F. Natividad, PhD


    Dean, School of Medical Lab Science
    FEU-NRMF
    Intended Learning Outcomes (ILO)
    At the end of this lecture, the student is able to:
    1. Explain the packing of the chromosome.
    2. Describe the composition of a chromosome including the
    chromosome map.
    3. Characterize the human chromosomes as to:
    a. Number
    b. Types based on centromere location
    4. Discuss differences between the X and Y chromosomes
    5. Explain the importance of X-inactivation.
    Chromosome
    • A macromolecule that carries genes.
    • Composed of DNA, except for some viruses which contain
    RNA.

    • The chromosome is long, thin, and very fragile that needs


    to be packaged to avoid breaking
    The Cell Cycle
    • Interphase
    – G0
    – G1
    INTERPHASE: – S phase
    – G2
    • Mitosis

    Biological Science, a Molecular Approach.


    BSCS Blue Version. Heath and Company, 1996.
    Chromosome Composition
    • Each G1 chromosome = single double-
    stranded DNA molecule
    – monad
    – chromatid
    • Associated with
    – histones (eukaryotes only)
    • Histones are proteins rich in (+) charged
    lysine and arginine residues
    • bind to (-) charged DNA PO4
    – Non-histone proteins – Transcription
    factors (TF)
    • TF- regulate which part of the DNA will be
    transcribed.
    • At metaphase = 2 sister chromatids or
    dyad
    Chromosome Packing
    The lowest level is the nucleosome, consisting of
    150 bp of DNA wrapped 1 3/4 times around a nucleosome
    core of 8 histone proteins. Nucleosomes form a
    string of beads.

    The nucleosomes coil up into a 30-nm


    chromatin fiber. This level of packaging
    exists even during interphase.

    During cell division, chromatin fibers are


    attached in loops of variable size to a
    protein scaffold.

    Further coiling gives the compact structures


    seen in metaphase.

    Image Source: Nature 421, 448-453 (23 January 2003)


    Chromosome Homologs

    • Homologous pair

    • Sister chromatids
    o dyad – 2 sister chromatids

    o genetically identical

    • Non-sister chromatids
    – genetically non-identical
    Chromosome Nomenclature
    • p (petit)
    • q (queue)
    • ‘cen’ – divides the chromosome into 2
    arms
    • ‘ter’ – has a repeated sequence of
    TTAGGG

    • Regions: labeled p1, p2, p3 etc., and q1,


    q2, q3, etc., counting outwards from the
    centromere.

    • Regions are divided into


    – bands labeled p11 (one-one, not eleven!), p12,
    p13, etc.,
    – sub-bands labeled p11.1, p11.2, etc.,
    – sub-sub-bands e.g. p11.21, p11.22, etc.
    An ideogram – chromosome map
    Erratum p. 31
    Chromosome Nomenclature

    • Proximal 7q - means the segment of the


    long arm of chromosome 7 that is closest to
    the centromere

    • Distal 7p - means the portion of the short


    arm of chromosome 7 that is most distant
    from the centromere, and therefore closest to
    the telomere

    An idiogram
    Four major classes of chromosomes based
    on centromere location
    CHROMOSOMES

    Chromosomes with satellite (has secondary


    constriction – do not stain)
    • Chromosomes 13, 14, 15, 21, 22

    • All acrocentric

    • May be used for identification


    Chromosome Numbers (Human)
    • Somatic cells – contain a set of 46
    chromosomes
    – 44 autosomes + 2 sex
    chromosomes
    – Diploid (2n) = 2 sets

    • Sex cells – contain half the number


    of chromosomes as somatic cells
    – Gametes (sperm or egg cells)
    – 22 autosomes plus 1 sex
    chromosome
    – Haploid (n) = 1 set

    Karyogram
    Sex Chromosomes
    • Male – X, Y
    • Female – X, X

    • What is the sex of the offspring if the


    X-containing sperm fertilizes an egg?
    X CHROMOSOME
    • 900 genes
    • Only a few determine sex characteristics
    • Most of the genes have no counterpart in the
    Y chromosome
    • Each gene (even if recessive in females) will
    be expressed in males
    • A gene recessive in females will be
    expressed in male offspring. True or
    False?
    • The inherited X genes are described as
    sex-linked or X-linked
    X-linked genes (recessive)
    Example: mutation in clotting factor VIII gene causes
    hemophilia A (a bleeding disease)
    • Clotting factor VIII – involved in clotting of blood
    • Female – two copies of the gene (diploid)
    • Male – only one copy of the gene (haploid)
    • If mutation occurs in females:
    – H is normal; h is mutant
    – may be heterozygous (Hh) or homozygous (hh)
    – If heterozygous (Hh) – disease will not manifest
    – If homozygous (hh) – disease manifests (uncommon)
    • If mutation occurs in males: (h)
    – Always manifest the disease because there is only one
    copy of h gene
    X-linked genes (dominant)
    Example: mutation in familial mental retardation-1
    (FMR-1) gene that causes Fragile X syndrome

    • If mutation occurs in females: (f is normal; F is


    mutant)
    – Even if heterozygous (Ff) - disease manifests
    - Homozygous (ff) - normal
    - Homozygous mutation (FF) disease

    • If mutation occurs in males: (F)


    – Always manifest the disease because there is only one
    copy of F gene
    o Smaller than X
    Y chromosome o Fewer genes (55)
    o Most are directly involved in male fertility
    o e.g., mutations cause azoospermia
    o SRY (sex-determining region of Y)
    o The testis determining factor
    o External and internal male genitalia
    o Few traits are Y-linked and Y-linked
    diseases are rare
    o Pseudoautosomal regions (PAR)
    o PAR 1 and PAR 2
    o contain autosomal genes homologous
    to sequences in the X chromosome
    o Essential for X and Y pairing, and cross-
    over during meiosis.
    X-inactivation (Lyonization)
    • Females inherit 2 copies of every
    gene on the X chromosome,
    whereas males usually inherit only
    one.
    • Are both copies of the genes
    expressed in females?
    Father’s X
    • What is lethal gene dosage? X-
    – The presence of double dose of gene inactivation Mother’s X

    products, which may have lethal


    consequence Cell division

    • What is Barr body? Barr bodies


    • How does X-inactivation occur? Figure 2.7 The Barr body.
    X-inactivation
    • At what stage of development does X-
    inactivation occur?

    • At what stage of the cell cycle is the Barr body


    seen?

    • Which X chromosome is inactivated? From


    father or from mother?

    • In case of X-linked diseases


    – for unexplained reasons, it is found that the X
    chromosome which carries the defective gene is
    usually inactivated.
    – If a female inherits a gene that causes an X-linked
    disease, the other gene copy being normal, it is the
    abnormal gene that is inactivated
    X-inactivation
    Mosaicism is a condition in which different
    cells of the body of a person have
    different genetic composition. This
    occurs when mutations occur in
    different tissues at different stages of
    developments
    – Mosaicism may also involve autosomes

    Sex-linked Mosaicism: to whom will this


    most likely occur, male or female?
    Answer: female (males have only one X)
    X-inactivation
    Example : Calico Cat
    • fur color gene is X-linked
    • Brownish-black (dominant allele)
    • Yellow-orange (recessive allele)
    • A female cat heterozygous for this gene
    has patches of each color, forming a
    tortoise shell pattern that arises from
    different cells expressing either of the two
    alleles.
    The earlier the inactivation, the larger
    the patches, because more cell
    divisions can occur after the event,
    producing more daughter cells
    X-inactivation

    Hemizygous – a condition when only one allele of a


    pair is present
    – Usually applied to genes in the X chromosome in males

    You might also like