ANTHROPOLOGY 102

Module 3

From Genotype to Phenotype

Profe Pepe Aguilar

(03-03-22)
 From Genotype to Phenotype
• During replication and protein synthesis, our DNA is translated into
the physical reality of our bodies.
• What you initially see is what you should always get!!!
• A framework: Structural Genes & Regulatory Genes!
• Structural genes are responsible for body structures:
• Your basic anthropomorphic structure!
• Regulatory genes turn other specific genes on and off:
• If the genes that determine growth do not turn off at a certain point,
bones would continue to grow well beyond “normal”…
• …teeth in chickens…total body hair coverage in humans…
SG’s may be quite similar across different
(but related species), so RG’s probably are
critical in determining the true form an
organism, or species, takes…

SG’s

Basic Anthropomorphic
Structure….
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• RG’s influence the physical, therefore (directly or indirectly) the
behavioral differences between the species…or members of a species.

• The genes for sexual maturity turn on during puberty generally

speaking earlier in girls than boys…

• Random Trivia: Geneticists estimate that DNA base sequences in

humans and chimps are 95-96 % identical.

New Important Terms

• Phenotype: the observable physical features of an organism that is
under some form of genetic control or influence…

• Genotype: the set of specific genes (or alleles) an organism carries –

the genetic constitution of that organism, in other words.

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• In most cases their relationship is direct: the observed phenotype is
a direct product of the genotype and/or the underlying alleles…

• In other cases, the genotype interacts with factors in the

environment to produce a phenotype…

• Examples: Obesity & Thinness & Tanning...

• Excessive musculature!!!

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 Phenotype Mutations
• Mutations affect your phenotype…
• RECAP: Any time somatic cells divide, a mutation (or error) may
occur & be passed down to the daughter cells…
• Mutations that occur in sex cells are important because they can be
passed to subsequent generations.
• There are several different kinds of mutations…
• A Point Mutation occurs when a single base in a gene is changed…
• Example: Sickle Cell…
• … caused by an abnormal form of the protein hemoglobin, which
transports oxygen in red blood cells…
• In SC the abnormal hemoglobin molecules stick together when they
release oxygen, forming a structure with a helical shape (or sickle).

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Sickle Cell

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• The formation of sickle cells increases during periods of oxygen
stress (i.e., jogging, Sweating to the Oldies, gordobics, etc.)…

• SC does not affect the ability of the hemoglobin to carry oxygen, but
rather causes these molecules to stick together and become stiffer…

• …causes chronic anemia and secondary effects that can be deadly

during a crisis.

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Symptoms of Sickle Cell
» Abdominal pain…
» Bone pain…
» Delayed growth and puberty…
» Fatigue…
» Fever…
» Paleness…
» Rapid heart rate…
» Yellowing of the eyes (Jaundice)…
» Chest pain…
» Excessive thirst…
» Frequent urination…
» Priapism (ha, ha, ha!!!)…
» Poor eyesight or blindness…
» Strokes…
» Skin ulcers.

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Jaundice

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Jaundice

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Avascular Necrosis

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Skin Ulcer

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Sickle Cell Distribution in the Old World

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Malaria Distribution in the Old World

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Malaria distribution Across the World

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Anopheles albimanus Mosquito

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 Mutations: Bad, Neutral, or Good?
• Although several diseases can arise as a result of mutations in
genes, most mutations are probably neutral…
• A mutation may affect the anatomy or physiology of an organism
and still have no effect on the fitness of an individual…
• Habsburg Face, found in many European noble families.
• On the other hand, can mutations be “good”? Yes!
• Without mutations there could be no Natural Selection…

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 Habsburg Face

King Charles II

King Charles V
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 Autosomal Dominant Disorder

• ADD: A disease that is caused by a dominant allele

• Only one copy needs to be inherited from either parent for the
disease to develop…
• Achondroplasia!
• One in 10,000 births…and they result almost entirely from new
mutations!
» Abnormal hand appearance…
» Bowed legs…
» Decreased muscle tone…
» Disproportionate head – body size difference…
» Prominent forehead (not to be confused with hydrocephaly)…
» Shortened arms and legs (especially upper arm and thigh)…
» Short stature…
» Spinal stenosis…
» Spine curvatures called kyphosis and lordosis.

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 Achondroplasia

The Wee-Man

“Little People”

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Achondroplasia

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Achondroplasia

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NOT to be confused with Hydrocephaly

Cerebral
Spinal
Fluid 24
Congenital Hydrocephaly

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 Congenital Hydrocephaly

Star Child Skull “Normal” Human Skull

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Congenital Microcephaly

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 Spinal Stenosis

Autosomal
Dominant
Disorder

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 Spinal Stenosis

People may experience:

Pain areas: back, legs, thighs, & buttocks that worsens while standing…

Pain circumstances: can occur while exercising…

Muscular Symptoms: abnormal walking, cramping, or muscle weakness…

Sensory: leg numbness, pins and needles, or reduced sensation to touch!

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 Kyphosis

Autosomal
Dominant
Disorder

Lordosis (a.k.a. “S-Shaped”back)

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Cervical
Degenerative
Kyphosis

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Lordosis on a Horse

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Acute Intermediate Porphyria

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 X-Linked Disorders

• Result of gene mutations affecting the X chromosome structure…

• Recap: Males = XY chromosomes; females = XX chromosomes…

• Males are the heterogametic sex and females are the homogametic sex…

• Because human males have only 1 copy of the X chromosome, they

are susceptible to diseases caused by mutations in the X chromosome
genes…

• These diseases are less common in females because (in their case)
they need to be present in the two copies of the X chromosome…

• Female children of affected males become carriers of the condition

because one of their X chromosomes is a copy of their father’s X
chromosome.

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• If a male has an X-Linked disorder, he cannot pass it on to his sons
because he does not pass an X chromosome to them…

• His daughters will become carriers…

• An example: Lesch-Nyhan Syndrome:

 Neurologic dysfunction
 Cognitive disturbances
 Behavioral disturbances (including self-mutilation)
 Overproduction of uric acid:
» Sand-like crystals in urine
» Kidney stones

• The best example: Hemophilia: is the absence of one of the clotting

factor proteins in blood…

• This disease causes severe hemorrhages and severe joint damage…

• Most likely to occur in males than in females.

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Hemophilia

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Hematomas

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Hematomas

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 Other X-Linked Disorders

• Red and Green color blindness; much more common in men than
they are in women

• Congenital deafness...

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 Genetics Beyond Mendel
• Mendelian genetics provided a beginning for our understanding of
the biological mechanisms of heredity and evolution…

• …but it can lead to a misleading, oversimplified view of life…

• REDUCTIONISM!!!

• Mendelian genetics is most useful when examining traits for which

there are different and non-overlapping phenotypic variants…

• Either you have a trait or another, but not an overlap…

• This is called Qualitative Variation!

• Albinism is the absence of pigmentation in the skin, hair, & iris of the
eye.

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Albinism

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Albinism

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Speaking of Quantitative Variation

Munsell Soil Color Chart

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• Quantitative Variation is a continuous variation of some trait…
• Ex’s: timing of puberty, skin color, eye color, height, & weight…
• In this case, it is not possible to divide the population in discrete
groups reflecting one variant or another because the variation is
overlapping…
• If we measure enough individuals, we find that there is a “normal”
(bell-shaped) distribution in the individual expression of that trait…
• Their expression depends on the action of multiple genes, each of
which have more than one allele…
• Allele: alternative version of a gene…
• The more genes and alleles that contribute to a polygenic trait, the
more possible genotypes – and phenotypes – are possible…
• The better for Natural Selection!

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Thank You!!!

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