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Genética y herencia
Cromosoma A.D.N.
Representación de
la Primera Ley de
Mendel.
Gregorio Mendel El material genético se reparte a
El “padre” de la Genética las células hijas durante la división
celular.
El asesoramiento
médico puede prevenir
Este insecto ha
la aparición de algunas
sido muy
enfermedades
utilizado en
genéticas en los bebés
investigaciones
de una pareja.
genéticas.
Drosophila melanogaster
Genetics is the study
of genes, heredity, and genetic
variation in living organisms. It is
generally considered a field of biology,
but it intersects frequently with many of
the life sciences and is strongly linked
with the study of information systems.
Genomics is a discipline in genetics that
applies recombinant DNA, DNA
sequencing methods, and bioinformatics to
sequence, assemble, and analyze the
function and structure
of genomes (the complete set of DNA
within a single cell of an organism).
The father of genetics is Gregor Mendel, a late 19th-century scientist and Augustinian friar. Mendel studied 'trait inheritance', patterns in the
way traits were handed down from parents to offspring. He observed that organisms (pea plants) inherit traits by way of discrete "units of
inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene.
DNA
Many scientists and technological advances contributed to the discovery of DNA structure and function.
Drosophila melanogaster is a model organism in many genetic studies. In fruit flies, the dominant trait for eye
color is red. The discovery of a male fruit fly with white eyes in the laboratory of Thomas Hunt Morgan played
an important role in the eventual identification of DNA as the carrier of genetic material
How did scientists discover a "transforming principle" that could be acquired
by cells and transmitted to offspring?
Griffith's experiment:
Mice injected with R bacteria develop a mild
illness but then recover to full health, but mice
injected with S bacteria die from the infection.
Injection of S bacteria that were killed with heat
does not kill the mice. However, if the heat-
killed remnants of S bacteria are combined with
live R bacteria and injected, the mice die.
Postmortem analysis of these mice reveals S
bacteria — not R bacteria — in their tissues.
Griffith's experiment provided evidence that a
chemical substance from heat-killed bacteria
could "transform" living bacteria. All the
offspring of the living bacteria inherited the
transforming principle.
The Avery-MacLeod-McCarty experiment
A DNA molecule is a polymer made up of nucleotide monomers. Each nucleotide consists of a nitrogenous base
that is either a pyrimidine or a purine, along with a deoxyribose sugar and a phosphate group.
Organism %A %G %C %T A/T G/C %GC %AT
In 1950, two years before the results of the
Hershey-Chase experiment were published, Erwin
Chargaff published two significant findings about φX174 24.0 23.3 21.5 31.2 0.77 1.08 44.8 55.2
the nucleotide composition of DNA known Maize 26.8 22.8 23.2 27.2 0.99 0.98 46.1 54.0
as Chargaff's rule. In the first finding, Chargaff
stated that the nucleotide composition of DNA Octopus 33.2 17.6 17.6 31.6 1.05 1.00 35.2 64.8
varies between species. He found that not only did
the combination of nucleotides vary but also the Chicken 28.0 22.0 21.6 28.4 0.99 1.02 43.7 56.4
proportion of specific nucleotides varied between
species. For example, the DNA of one species Rat 28.6 21.4 20.5 28.4 1.01 1.00 42.9 57.0
may contain 30% cytosine, but another species Human 29.3 20.7 20.0 30.0 0.98 1.04 40.7 59.3
may have DNA containing only 28% cytosine. This
finding provided evidence for genetic diversity Grasshop
29.3 20.5 20.7 29.3 1.00 0.99 41.2 58.6
between species. Chargaff's second finding per
showed that DNA maintains certain properties
across all species. He found that the total amount Sea
32.8 17.7 17.3 32.1 1.02 1.02 35.0 64.9
of pyrimidines (C and T) nearly always equals the Urchin
total amount of purines (A and G) in a given
Wheat 27.3 22.7 22.8 27.1 1.01 1.00 45.5 54.4
sample of DNA. Furthermore, the total amount of
cytosine (C) is always equal to the total amount of Yeast 31.3 18.7 17.1 32.9 0.95 1.09 35.8 64.4
guanine (G), and the total amount of thymine (T) is
always equal to the total amount of adenine (A). E. coli 24.7 26.0 25.7 23.6 1.05 1.01 51.7 48.3
In 1953, James Watson and Francis Crick published a
one-page report in the journal Nature in which they
described their now-famous double-helix model of the
DNA molecule. In developing their model, Watson and
Crick took advantage of chemical knowledge of DNA,
recent advances in three-dimensional molecular model
building, Chargaff's findings about base equivalencies,
precise measurements of DNA subunits, and X-ray
diffraction analysis of DNA, which reveals the structure of
materials based on the scattering of X-rays from the
electron clouds of atoms in a sample. In 1962, Watson,
Crick and a third researcher, Maurice Wilkins, received the
Nobel Prize for the discovery of the structure of the DNA
molecule. It is important to note that Watson and Crick did
not discover DNA or the function of DNA. Instead, they Lab rats ... James Watson, above left, and
developed a model for the structure of the DNA molecule Francis Crick weren't going to let Rosalind
that matched all of the known data about DNA and its Franklin get in the way of scientific glory.
components; and this model could be used to explain how Photo-illustration: Harry Afentoglou
DNA functions in storing and transmitting genetic
information.
British scientist Rosalind Franklin
provided data that were key to
discovering the structure of DNA.
Rosalind Franklin provided
exceptional quality data from X-ray
diffraction patterns of purified
DNA. Her data allowed Crick and
Watson to derive the molecule's
double helix structure.
The i-motif is a four-stranded 'knot' of DNA. Scientists aren't yet sure why this
structures exist, but some factors suggest they may play a role in regulating gene
expression.
In eukaryotes, nuclear chromosomes are packaged by
proteins into a condensed structure called chromatin. This
allows the very long DNA molecules to fit into the cell
nucleus. The structure of chromosomes and chromatin
varies through the cell cycle. Chromosomes are even
more condensed than chromatin and are an essential unit
for cellular division. Chromosomes must be replicated,
divided, and passed successfully to their daughter cells so
as to ensure the genetic diversity and survival of their
progeny. Chromosomes may exist as either duplicated or
unduplicated. Unduplicated chromosomes are single
linear strands, whereas duplicated chromosomes contain
two identical copies (called chromatids or sister
chromatids) joined by a centromere.
Chromatin is a complex of macromolecules found in cells, consisting of DNA, protein and RNA. The
primary functions of chromatin are
1) to package DNA into a smaller volume to fit in the cell,
2) to reinforce the DNA macromolecule to allow mitosis,
3) to prevent DNA damage, and
4) to control gene expression and DNA replication. The primary protein components of chromatin
are histones that compact the DNA. Chromatin is only found in eukaryotic cells (cells with nuclei).
The structure of a eukaryotic protein-coding gene
The structure of a prokaryotic operon
Genetic diversity