Environmental Influences on Gene

Expression
By: Ingrid Lobo, Ph.D. (Write Science Right) © 2008 Nature Education
Citation: Lobo, I. (2008) Environmental influences on gene expression. Nature
Education 1(1)
Internal and external environmental factors, like gender and temperature, influence gene
expression.
1. 1Introduction
2. 2Sex-Influenced and Sex-Limited Traits
3. 3Drugs and Chemicals
4. 4Temperature and Light
5. 5References and Recommended Reading

The expression of genes in an organism can be influenced by the environment, including

the external world in which the organism is located or develops, as well as the organism's
internal world, which includes such factors as its hormones and metabolism. One major
internal environmental influence that affects gene expression is gender, as is the case with
sex-influenced and sex-limited traits. Similarly, drugs, chemicals, temperature, and light are
among the external environmental factors that can determine which genes are turned on and
off, thereby influencing the way an organism develops and functions.
Sex-Influenced and Sex-Limited Traits
Sex-influenced traits are those that are expressed differently in the two sexes. Such traits
are autosomal, which means that the genes responsible for their expression are not carried
on the sex chromosomes. An example of a sex-influenced trait is male-pattern baldness.
The baldness allele, which causes hair loss, is influenced by the hormones testosterone and
dihydrotestosterone, but only when levels of the two hormones are high. In general, males
have much higher levels of these hormones than females, so the baldness allele has a
stronger effect in males than in females. However, high levels of stress can lead to
expression of the gene in women. In stressful situations, women's adrenal glands can
produce testosterone and convert it into dihydrotestosterone, which can result in hair loss.
Sex-limited traits are also autosomal. Unlike sex-influenced traits, whose expression differs
according to sex, sex-limited traits are expressed in individuals of only one sex. An
example of a sex-limited trait is lactation, or milk production. Although the genes for
producing milk are carried by both males and females, only lactating females express these
genes.
Drugs and Chemicals
The presence of drugs or chemicals in an organism's environment can also influence gene
expression in the organism. Cyclops fish are a dramatic example of the way in which an
environmental chemical can affect development. In 1907, researcher C. R. Stockard created
cyclopean fish embryos by placing fertilized Fundulusheteroclituseggs in 100 mL of
seawater mixed with approximately 6 g of magnesium chloride. Normally, F. heteroclitus
embryos feature two eyes; however, in this experiment, half of the eggs placed in the
magnesium chloride mixture gave rise to one-eyed embryos (Stockard, 1907).
A second example of how chemical environments affect gene expression is the case of
supplemental oxygen administration causing blindness in premature infants (Silverman,
2004). In the 1940s, supplemental oxygen administration became a popular practice when
doctors noticed that increasing oxygen levels converted the breathing pattern of premature
infants to a "normal" rhythm. Unfortunately, there is a causal relationship between oxygen
administration and retinopathy of prematurity (ROP), although this relationship was
unknown at the time; thus, by 1953, ROP had blinded approximately 10,000 infants
worldwide. Finally, in 1954, a randomized clinical trial identified supplemental oxygen as
the factor causing blindness. Complicating the issue is the fact that too little oxygen results
in a higher rate of brain damage and mortality in premature infants. Unfortunately, even
today, the optimal amount of oxygenation necessary to treat premature infants while
completely avoiding these complications is still not clear.
Yet another example of the way in which chemicals can alter gene expression involves
thalidomide, a sedative, antiemetic, and nonbarbiturate drug that was first manufactured
and marketed during the mid-1950s. While thalidomide has no discernable effect on gene
expression and development in healthy adults, it has a profoundly detrimental effect on
developing fetuses. When the drug was first created, however, its impact on fetuses was not
known. Moreover, because of its apparent lack of toxicity in adult human volunteers,
thalidomide was marketed as the safest available sedative of its time and rapidly became
popular in Europe, Australia, Asia, and South America for countering the effects of
morning sickness. (In the United States, the drug failed to receive Food and Drug
Administration approval because its side effects included tingling hands and feet after long-
term administration, which led to concerns that the drug might be associated with
neuropathy.) Not until 1961 did Australian researcher William McBride and German
researcher Widukind Lenz independently report that thalidomide was a teratogen, meaning
that its use was associated with birth defects. Another study associated thalidomide use
with neuropathies. Sadly, the drug was withdrawn too late to prevent severe developmental
deformities in approximately 8,000 to 12,000 infants, many of whom were born with
stunted limb development. Interestingly, despite the fact that thalidomide is dangerous
during embryonic development, the drug continues to be used in certain instances yet
today. For example, it has therapeutic potential in treating leprosy, and in recent years, it
has also been used to treat cancers and enhance the effectiveness of cancer vaccines
(Bartlett et al., 2004; Fraser, 1988).
Temperature and Light
The expression o
Figure 1: The expression of some genotypes depends on specific environments.
Used with permission. © 2005 by W. H. Freeman and Company. All rights reserved.
In addition to drugs and chemicals, temperature and light are external environmental factors
that may influence gene expression in certain organisms. For example, Himalayan rabbits
carry the C gene, which is required for the development of pigments in the fur, skin, and
eyes, and whose expression is regulated by temperature (Sturtevant, 1913). Specifically, the
C gene is inactive above 35°C, and it is maximally active from 15°C to 25°C. This
temperature regulation of gene expression produces rabbits with a distinctive coat coloring.
In the warm, central parts of the rabbit's body, the gene is inactive, and no pigments are
produced, causing the fur color to be white (Figure 1). Meanwhile, in the rabbit's
extremities (i.e., the ears, tip of the nose, and feet), where the temperature is much lower
than 35°C, the C gene actively produces pigment, making these parts of the animal black.
Light can also influence gene expression, as in the case of butterfly wing development and
growth. For example, in 1917, biologist Thomas Hunt Morgan conducted studies in which
he placed Vanessa urtica and Vanessa io caterpillars under red, green, or blue light, while
other caterpillars were kept in the dark. When the caterpillars developed into butterflies,
their wings showed dramatic differences. Exposure to red light resulted in intensely colored
wings, while exposure to green light resulted in dusky wings. Blue light and darkness led to
paler colored wings. In addition, the V. urtica butterflies reared under blue light and V. io
butterflies reared in the dark were larger than the other butterflies.
As these examples illustrate, there are many specific instances of environmental influences
on gene expression. However, it is important to keep in mind that there is a very complex
interaction between our genes and our environment that defines our phenotype and who we
are.
References and Recommended Reading
Bartlett, J. B., et al. The evolution of thalidomide and its IMiD derivatives as anticancer
agents.Nature Reviews Cancer4, 314–322 (2004) doi:10.1038/nrc1323 (link to article)
Fraser, F. C. Thalidomide retrospective: What did we learn? Tetralogy38, 201–302 (1988)
Morgan, T. H. Experimental Zoology (New York, Macmillan, 1917)
Silverman, W. A. A cautionary tale about supplemental oxygen: The albatross of neonatal
medicine. Pediatrics113, 394–396 (2004)
Stockard, C. R. The influence of external factors, chemical and physical, on the
development of Fundulusheteroclitus.Journal of Experimental Zoology4, 165–201 (1907)
Sturtevant, H. The Himalayan rabbit case, with some considerations on multiple
allelomorphs. American Naturalist47, 234–238 (1913)