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Function of the
human genome
Size is not the only dimension that makes
the human genome impressive.
Functional operation is another. At seem-
ingly random spots along a chromosome’s
strand of DNA, base pairs are organized
into units that operate together. These are
the genes.
There is an important term for those
“seemingly random spots along a chro-
10 BEHAVIORAL GENETICS
mosome’s strand of DNA,” and it will Proteins make up the structure of cells:
appear frequently in this text. That term hair, cartilage, bone, and the other phys-
is locus; the plural is loci. It means ical components of the body are built
“location of the gene on the chromo- from protein. In the form of hormones,
some.” The word locus also has come to enzymes, and antibodies, proteins direct
stand for “the location of a segment of cell activity. Proteins help transport mate-
DNA within a gene.” rials between cells and they help cells
Each gene varies in the order of the communicate with each other.
bases along its length. The average Another critical task of proteins exem-
human gene is three thousand base pairs plifies that old phrase “turnabout is fair
long. The human genome contains an play.” Proteins are constructed through
estimated 30,000 or more genes, yet gene activity and — in the form of
these genes comprise less than 5 percent hormones, growth factors, and other
of the genomic material. regulatory molecules — proteins also A protein can be visualized as
Put simply, this is what genes do: affect gene activity. a long strand of material that
bends and folds into a complex
They provide the template for a series of The adjective that describes this phe-
three-dimensional shape.
intricate steps that cells follow to create nomenon is epigenetic. Epi is a Greek This long strand typically is
proteins. A gene’s string of bases is organ- root meaning “upon,” and epigenesis created from two or more chains
ized into triplets. The sequence of DNA means the process of affecting the action of amino acids (and sometimes
other chemicals) that have linked
triplets that defines a gene is copied into of a gene without altering the DNA of the together. Each separate chain
a string of RNA (ribonucleic acid, a chem- gene itself. Epigenetic effects are pro- is created according to the
ical similar and complementary to DNA) duced not only by proteins but also by instructions contained in a gene.
triplets. In most cases, each RNA triplet RNA; by certain genes with managerial
codes for one of twenty different small responsibilities; and by the imprinting of
molecules called amino acids (fondly genes (a little-understood phenomenon
referred to by science teachers as “the by which a gene expresses itself differ-
building blocks of the body”). Most of the ently depending upon whether it was
amino acids have names ending in “ine” inherited from the mother or the father).
such as alanine, glycine, and isoleucine. These epigenetic factors are what
The amino acids coded for by a gene link cause some cells to turn into skin while
together into a polypeptide chain. These others become part of the liver, bone, or
chains can be hundreds or thousands of brain, even though all the cells contain
links long (shorter strands are referred to the same package of DNA. Epigenetic
simply as “peptide chains”). A protein is mechanisms remain important through-
formed when (in most cases) two or out life, selectively triggering the genes in
more chains link together into a three- various tissues in response to environ-
dimensional structure. mental stimuli.
12 BEHAVIORAL GENETICS
far more than 30,000 proteins. This is percent that is an overwhelming simi-
possible because the amino acids larity. However, one tenth of a percent
produced by genes can combine in dif- of three billion base pairs of DNA is
ferent ways to make different proteins. 3 million, a very large number.
Nearly all the cells of the body contain Some of those tenth-of-a-percent differ-
the entire set of genes. But within each ences occur in the genes. Every human
cell no more than about 5 percent of the has the same basic package of genes, but
genes are ever expressed. The genes in each gene may show up in a different ver-
the cells of one tissue (for example, sion, called an allele. A gene’s alleles differ
kidney cells) may — under certain slightly from one another in terms of the
environmental conditions — become order that the four bases — A, T, C, and
activated and express themselves while G — appear along the DNA strand.
the equivalent genes in the cells of Scientists believe that there are two or
another tissue (for example, the brain) more variants for most human genes; the
remain inactive. average number of normal alleles for a
The bottom line is that the 30,000- gene is estimated at 14, but some genes Nitrogen-containing molecules
some human genes are capable of have 50 or more. Humans are diploid, called nucleotides or bases are
paired and lined up on a twisting
producing a many-times-larger number of which means they carry two alleles for ladder-like structure (a double
proteins. These proteins work independ- every gene (one inherited from the father helix) to form a chromosome.
ently and in combinations to create an and one from the mother); the two alleles Sections of these base pairs
operate together as genes.
even larger number of outcomes in the in a given pair may be identical (in which
Other sections have other
cells of the body. case they are homozygous) or different functions. Species differ in
(heterozygous). Each person is unique in their number of chromosomes.
14 BEHAVIORAL GENETICS
the genetic message coded by that gene.
sometimes lead to a phenotypic difference each population, certain alleles are passed
that affects, for good or bad, the onto the next generation by chance,
organism’s ability to thrive or survive. increasing or decreasing their likelihood
If the mutation occurs in a gamete of of being passed on again to the third gen-
an individual (the egg or sperm cell eration. Over time, the number of alleles
involved in reproduction), then the new that remain in the population are
mutation appears in the cells of that indi- reduced. The smaller the population, the
vidual’s offspring. Such mutations lead to greater the reductions in allelic variety
variety within a species. If the mutation over time. The separated populations
offers an advantage for survival, then indi- diverge—drift apart—in terms of the
viduals with the mutation will leave more alleles they carry.
16 BEHAVIORAL GENETICS
discernable role — we might more wisely disease have been tracked to one gene.
say that their role still awaits discovery. Most physical traits and conditions —
So a new metaphor is replacing the such as height, blood pressure, weight,
metaphor of genome-as-text. This is the and digestive activity — stem from many
metaphor of the genome as a community genes that vary in activity depending on
or collective, working together for a environmental contexts. The same is true
shared purpose. Just as a cast, crew, direc- for all complex behaviors. Each is affected
tors, and producers work together to put by multiple genes interacting with mul-
on a play, so the elements of the genome tiple environmental influences. For any
work with each other, and with epige- given behavior, relevant genes and envi-
netic characters, to express the chemical ronmental factors number in the dozens,
products required by a body in the hundreds, or perhaps thousands.
process of life. Unfortunately, many people have a
different impression. They think that a
gene controls a behavioral trait, period.
Behavior and the genome This is genetic determinism, that is, the
All of this description about the genome is belief that the development of an
simply background to the question at organism is determined solely by genetic
hand, which is how genes, operating factors. Genetic determinism is a false
within environments, connect to belief. It comes from misunderstandings
behavior. Behavior results from the of scientific research.
genetic coding that occurs in cells A great many studies have explored Scientists have only begun to
throughout the body, but especially in the possible connections between genetic fac- explore the complex relationship
between genetics, environments,
nervous system: the brain, spine, and tors and specific behaviors, such as the
and human habits, tendencies,
network of nerves through which infor- age at which a young person begins to and addictions.
mation is communicated throughout the smoke and drink, the friends one selects,
body, electrically and chemically. Put a person’s tendency toward divorce,
simply, behavior results from lots and lots grooming habits, and one’s willingness to
of ongoing activity by many, many genes take risks, to name just a few. Some of
pressed into action by the environment these studies have found that close rela-
and through epigenetic factors. tives tend to be more alike for the trait in
Blood types, some simple metabolic question than people who are not as
processes, and a few physical traits stem closely related. But these kinds of studies
from the actions of a single gene, only identify correlations between people
irrespective of environment. Some health with similar genetic profiles and certain
disorders such as cystic fibrosis, early- behaviors. Correlations are related rates
onset Alzheimer’s, and Huntington’s of incidence, reflecting how much and in
18 BEHAVIORAL GENETICS
ducted several decades ago. In this exper- the scientists moved the experiment up a
iment, scientists took a group of ordinary notch. They had mice born to the timid
field mice and put them, one at a time, line foster-mothered by a mouse from the
into a brightly lit open box. The mice had brave line, and vice versa. They also
never been in the box before, and they mixed young from each line into one
reacted with a range of behaviors. litter to be raised together by one female
Some appeared to be fearful. They adult.
huddled motionless along the sides. Nothing changed. Mice from the line
Others appeared to be more brave. They inbred for timidity showed fear when
roamed about, though they did not stray placed in the open box. Mice from the
far from the sides. A few mice wandered line inbred for bravery responded with
freely, even venturing into the middle. courage.1
Using various tools, the scientists pre- Scientists point to these experiments as
cisely measured each mouse’s move- proof that behavior traits can be influ-
ments. They selected the most enced by heredity. These experiments
immobilized and the most active. Then also proved something else: that more
they bred these selected mice, fearful than one inherited factor was at work to
with fearful and brave with brave. affect mice behavior. We know this
When the next generation came along, because the intensity of bravery and fear-
scientists again tested each mouse in the fulness in the respective lines of mice
box. They selected the most timid occurred over many generations and con-
offspring of the timid parents and the tinued to evolve. If only one or two genes
bravest offspring of the brave parents. had been involved, the extreme form of
Many genes, plus many environ-
The selected offspring were again bred, the behavior would have been universal
mental factors, shape the
like with like. The scientists kept up such within a few generations (because each behavior of a mouse placed inside
inbreeding for thirty generations. parent only passes down one allele for an open box.
With each generation, the mice in the
timid group became, as a whole, more
timid, while the mice in the brave group
became, as a whole, more brave. The two
lines of mice came from the same original
stock, and they were kept and raised
under identical conditions. But their
responses to the box were becoming
progressively more different.
To make sure no uncontrolled factor
was affecting the behavior of the mice,
20 BEHAVIORAL GENETICS
might behave in strange situations. with children, intuitively knows this.
We cannot take human adults, test She is aware that children tend toward Scientists believe that each
them on a particular task and then, based certain temperaments, but that her own person’s package of genes might
partially explain tendencies, such
on performance, select some to breed actions, as well as other factors beyond as why one child has an outgoing
together in order to concentrate certain anyone’s control, affect the behavior personality and another is more
inherited factors in their children. patients manifest when in her clinic. shy. Yet many non-genetic factors
also affect how a human acts in a
Likewise, we cannot deliberately experi- Hoda probably understands children
particular circumstance.
ment with human babies by handling better than she realizes.
them differently to see how their
behavior might be affected as they
mature.
Notes
But we can give these animal studies
1 See Clark, W. and M. Grunstein (2000, pgs. 86–88) and in
credit for helping us understand the Plomin et al. (1997, pgs. 62–66) for discussions of the mice
studies. The research discussed is DeFries et al. (1978).
essential point that both inherited and
2 See Clark, W. and M. Grunstein (2000, pgs. 90–92) for a
environmental factors contribute to discussion of the rabbit studies.
DeFries, J. et al. 1978. “Response to 30 generations of selection for Rutter, M. 2002. “Nature, nurture, and development:
open-field activity in laboratory mice.” Behavior Genetics 8: 3-13. From evangelism through science toward policy and practice.”
Child Development 73: 1-21.
Dean H. Hamer, Ph. D. 2003. (home page, accessed 31 January);
available at http://rex.nci.nih.gov/RESEARCH/basic/ U.S. Department of Energy Human Genome Program. 2003.
biochem/hamer.htm “Genomics and its impact on science and society: Beyond the
human genome project.” (Accessed 9 June); available at
“Destined to divorce.” 14 July 2001. New Scientist: 15. http://www.ornl.gov/TechResources/Human_Genome/
publicat/primer2001/.
Enard, W., P. Khaitovich, J. Klose, S. Zöllner, F. Heissing, P. Giavalisco,
K. Nieselt-Struwe, E. Muchmore, A. Varki, R. Ravid, G. M. Doxiadis, Weiss, R. 2000. “For DNA, a defining moment.” Washington Post.
R. E. Bontrop, S. Paabo. 2002. “Intra-and interspecific variation in 23 May, A-1 and A-17-18.
primate expression patterns. Science 296: 340-343.
Wu, C.-t. and J. R. Morris. 2001. “Genes, genetics, and epigenetics:
A correspondence.” Science 293: 1103-1105.
22 BEHAVIORAL GENETICS
CHAPTER 2: HOW DO GENES WORK WITHIN THEIR ENVIRONMENTS? 23