Developmental Anatomy

Reference Materials: Developmental Genetics

Arey’ Developmental Anatomy
Langman’s Medical Embryology The Concept of Potency in Development
Snell’s Clinical Embryology
Color Atlas of Embryology, Ulrich Drews Toti-Potent
Gray’s Anatomy
Medical Genetics, Jorde, Carey, (?), White
Pluri-Potent Multi-Potent
Embryology
-the science that treats with the origin and
development of the individual organism Fixed (Determinate) Fate

The Fields of EMBRYOLOGY

Induction – the process in which cells of one embryonic region
• Morphological -Developmental Anatomy influence the organization and differentiation of cells in a
• Functional -Experimental Embryology second embryonic region
Developmental Mechanics - the stepwise specification of the genome controlled by
Causal Embryology cellular interactions between the daughter cells via growth
Analytical Embryology factors and CAMs through the general process of binding
-Chemical Embryology at tyrosine kinase receptors in the cell membrane

Single Cell to Multicellular Organism • Proliferation – by abolishing endogenous inhibition of

? the cells cycle
• Determination – the irreversible specification of the
• SEXUAL Reproduction…. genome through regulatory genes (e.g. .Hox cluster
SEX! genes)
SEX Cells … GAMETES • Differentiation – cell cycle is switched off. The final
determined fate of the cell (tissue) is assumed.
GAMETOGENESIS
HISTORY OF GENETICS
Oogenesis Spermatogenesis
Oogenesis Spermatogenesis Mendelian Principles (1865) –
Gregor Mendel’s Contrubutions
• Principle of Segregation – heterozygotes produced
Oocyte(Ovum)
Oocyte (Ovum) Spermatocyte(Sperm)
Spermatocyte (Sperm) equal number of gametes having the two different
alleles
• Principle of Independent Assortment - alleles at
FERTILIZATION different genes assort independently of each resulting in
FERTILIZATION
a 9:3:3:1 ratio in F2 progeny from a dihybrid cross

What? Components/histology
Where? Reproductive Anatomy 1910 – THOMAS HUNT MORGAN
How? Mechanisms/physiology The Chromosome Theory of Inheritance
Why? Fundamental Results:
1. sex determination • Equal Segregation of Alleles (Mendel 1) into gametes is
2. chromosomal constitution really the result of reductional division in meiosis.
3. initiation of cleavage • The Principle of Independent Assortment (Mendel 2) also
generally results from the behavior of chromosomes in
Periods in the Early Stages of Development: meiosis 1.
• Gametogenesis: Development and • The chromosome theory of inheritance holds that genes
Maturation of Sex Cells are arranged in linear fashion on chromosomes. The
• Fertilization Union of Sex Cells reason that certain traits tend to be inherited together is
that the genes governing these traits are on the same
• Cleavage Early Stages in the
chromosome. However, recombination between
Division of
chromosomes during meiosis can scramble the parental
the Fertilized Ovum
alleles and give nonparental combinations. The farther
• Gastrulation The stage when certain
apart two genes are on the chromosome the more likely
regions
such recombination between them will be.
of the blastula move into positions
that presages the characteristic
• Discovery of the DNA polymer of genes (O. Avery, 1944)
body plan
• Differentiation Progress into greater structural
• Structure of DNA – (Watson & Crick, 1953)
complexity
o Morphogenesis
Molecular Genetics
o Histogenesis
• The Human Genome
 Basic Terminology of Genetics

Gene - A segment of DNA that codes for a polypeptide

Genome - All genes possessed by one individual
Gene pool - All alleles present in a population
Homologous chromosomes - Two physically identical chromosomes with the same gene loci but necessarily the maternal origin and
the other paternal
Sex chromosomes - Two chromosomes (X and Y) that determines a person’s sex
Autosomes - All the chromosomes except the sex chromosomes, occur in 22 homologue pairs
Locus - The site on a chromosome where a particular gene is located
Allele - Any of the alternative forms that a particular gene can take
Genotype - The alleles that a person possesses for a particular trait
Phenotype - A detectable trait, such as eye color or blood type
Recessive allele - An allele that is not phenotypically expressed in the presence of a dominant allele, represented by lower case letters
Dominant allele - An allele that is phenotypically expressed in the presence of any other allele, represented by capital letters
Homozygous - Having identical alleles for a given gene
Heterozygous - Having two different alleles for a given gene
Carrier - A person who carries a recessive allele but does not phenotypically express it
Codominance - A condition in which two alleles are both fully expressed when present in the same individual
Incomplete dominance - A condition in which two alleles are both expressed when present in the same individual, it is intermediate
between those each allele would produce alone
Polygenic inheritance - A condition in which a single phenotype results from the combined action of genes in a loci, as in eye color
Pleiotropy - A condition in which a single gene produces multiply phenotype effects, as in sickle-cell diseases
Sex linkage - Inheritance of a gene on the X or Y chromosome, so that the associated phenotype is expressed more than the other
Penetrance - The percentage of individuals with a given genotype who actually exhibit the phenotype predicted from it

Major processes in Embryonic Development Regional Specification takes place in several steps.
• Induction
• Axis specification 1. Definition of the cells of a region,
• Pattern formation 2. Establishment of signaling centers that provide positional
• Polarity information, and
3. Differentiation of cells within a region in response to
- Embryonic development involves the process of additional cues.
pattern formation, axis specification and organogenesis. Each
of these processes is controlled by a series of proteins that GASTRULATION
provide signals and form structures necessary for normal NEURULATION AND THE ECTODERM
development of the embryo. MESODERM AND ENDODERM

The Mediators of Development

(The Molecular Toolbox) Axis Specification AP Axis
Dorsal/Ventral Axis
• Paracrine Signaling Molecules:
- Paracrine signaling molecules are secreted, diffuse a Organ Formation - involves reciprocal interactions between
short distance, and bind to a receptor that effects a response. epithelium and mesenchyme. The interaction is mediated
There are four major families of paracrine signaling molecules: by secreted signaling molecules that bind to receptors,
1. The Fibroblast Growth Factor (FGF) conduct signals through various interconnected pathways,
2. The Hedgehod family and stimulate or repress DNA transcription.
3. The Wingless family
4. Transforming Growth Factor b (TGF-b) family Craniofacial from neural crest cells
Limbs from lateral plate mesoderm and somatic mesoderm
• DNA Transcription Factors:
-There are many families of transcription factors, each of CLEAVAGE AND GASTRULATION
which regulates the transcription of specific genes. The same Potency
transcription factor is often used in different developmental Determination
pathways. Thus, disorders caused by mutations in genes
encoding transcription factors are often pleiotropic. ZYGOTE

• Extracellular Matrix Proteins:

EMPs are secreted macromolecules that serve as a BLASTULA/MORULA
dynamic scaffolding for tissues and organs. They are also
active mediators of development.
BLASTOCYST
Pattern Formation

• The process by which ordered spatial arrangements of

differentiated cells create tissues and organs is called pattern
formation.