DNA, Chromosomes, and Genomes
DNA, Chromosomes, and Genomes
DNA, Chromosomes, and Genomes
Genomes
DNA, Chromosomes, and Genomes
47
DNA, Chromosomes, and Genomes
Ø DNA structure and function
48
THE STRUCTURE AND FUNCTION OF DNA
(for DNA)
nucleoside
glycosidic
bon d
nucleotide
-CH3 , N6-Methyladenosine (m6A) modifica�on (prokaryo�c DNA or eukaryo�c mRNA) (replace one –H)
CH3
(RNA) Methyla�on
Deamina�on
The Base Paring
Chargaff’s Experiment on nucleo�de base composi�on
The Structure of DNA Provides a Mechanism for Heredity
34 Å
Because the nucleo�de A successfully pairs only with T, and G pairs with C, each
strand of DNA can act as a template to specify the sequence of nucleo�des in its
complementary strand. In this way, double-helical DNA can be copied precisely,
with each parental DNA helix producing two iden�cal daughter DNA helices
Summary on DNA Structure
DNA RNA
More ac�ve:
cataly�c ac�vity
metal binding
structures
epigene�cs
Is it possible
for RNA to
encode a
eukaryo�c
genome?
WT
? hth
The rela�onship between gene�c informa�on carried in DNA and
proteins.
The nucleo�de sequence of the human β-globin gene.
Select a database, find all the informa�on about your gene of interest, e.g., ‘human β-globin gene’. Some of
the databases are:
Gene, Protein, BLAST (sequence comparison), PubMed (literatures), OMIM (gene�c diseases), etc.
In Eukaryotes, DNA Is Enclosed in a Cell Nucleus
A cross-sec�onal view of a typical cell nucleus.
(A) Electron micrograph of a thin sec�on through the nucleus of a human fibroblast.
(B) Schema�c drawing, showing that the nuclear envelope consists of two
membranes, the outer one being con�nuous with the endoplasmic re�culum (ER)
membrane (see also Figure 12–7). The space inside the endoplasmic re�culum (the
ER lumen) is colored yellow; it is con�nuous with the space between the two
nuclear membranes. The lipid bilayers of the inner and outer nuclear membranes
are connected at each nuclear pore. A sheetlike network of intermediate filaments
(brown) inside the nucleus forms the nuclear lamina (brown), providing mechanical
support for the nuclear envelope. The dark-staining heterochroma�n contains
specially condensed regions of DNA that will be discussed later.
Summary
< Gene�c informa�on is carried in the linear sequence of
nucleo�des in DNA
78
DNA, Chromosomes, and Genomes
Ø DNA structure and Function
79
CHROMOSOMAL DNA AND ITS PACKAGING IN THE CHROMATIN FIBER
< Eukaryo�c DNA Is Packaged into a Set of Chromosomes
< Chromosomes Contain Long Strings of Genes
< The Nucleo�de Sequence of the Human Genome Shows How Our
Genes Are Arranged
< Each DNA Molecule That Forms a Linear Chromosome Must Contain a
Centromere, Two Telomeres, and Replica�on Origins
< DNA Molecules Are Highly Condensed in Chromosomes
< Nucleosomes Are a Basic Unit of Eukaryo�c Chromosome Structure
< The Structure of the Nucleosome Core Par�cle Reveals How DNA Is
Packaged
< Nucleosomes Have a Dynamic Structure, and Are Frequently Subjected
to Changes Catalyzed by ATP-Dependent Chroma�n Remodeling
Complexes
< Nucleosomes Are Usually Packed Together into a Compact Chroma�n
Fiber
Eukaryo�c DNA Is Packaged into a Set of Chromosomes
81
These chromosomes, from a female, were isolated from a cell undergoing nuclear
division (mitosis) and are therefore highly compacted. Each chromosome has been
“painted” a different color to permit its unambiguous iden�fica�on under the
fluorescence microscope, using a technique called “spectral karyotyping.”
Chromosome pain�ng can be performed by exposing the chromosomes to a large
collec�on of DNA molecules whose sequence matches known DNA sequences
from the human genome. The set of sequences matching each chromosome is
coupled to a different combina�on of fluorescent dyes. DNA molecules derived
from chromosome 1 are labeled with one specific dye combina�on, those from
chromosome 2 with another, and so on. Because the labeled DNA can form base
pairs, or hybridize, only to the chromosome from which it was derived, each
chromosome becomes labeled with a different combina�on of dyes. For such
experiments, the chromosomes are subjected to treatments that separate the two
strands of double-helical DNA in a way that permits base-pairing with the single-
stranded labeled DNA, but keeps the overall chromosome structure rela�vely
intact. (A) The chromosomes visualized as they originally spilled from the lysed
cell. (B) The same chromosomes ar�ficially lined up in their numerical order. This
arrangement of the full chromosome set is called a karyotype.
Figure 4–11 The banding pa�erns of human chromosomes.
Nature 464: 615 (2010); see also Science 331: 876 (2011)
Telomeres
< Telomere is required for chromosome stability.
< Telomere consists of a simple repeat
< Telomerase maintains the telomere length, uses the 3′–
OH of the G+T telomeric strand to prime synthesis of
tandem TTGGGG repeats.
< The RNA component of telomerase has a sequence that
pairs with the C+A-rich repeats.
< One of the protein subunits is a reverse transcriptase that
uses the RNA as template to synthesis the G+T-rich
sequence.
Telomeres Seal the Chromosome Ends
< The telomere-binding protein TRF2 catalyzes a reaction
in which the 3′ repeating unit of the G+T-rich strand forms
a loop at an upstream region of the telomere.