Elof Axel Carlson

The Body as a Biological

and Genetic Entity

WHEN I WAS AN UNDERGRADUATE BIOLOGY MAJOR AT NEW YORK

University in 1950, I took a course in comparative anatomy and
dissected a cat. At one point I called over my teaching assistant and
pointed to the inside of the trachea I had slit open. "What is that?"
I asked. He looked at the string-like material and replied, "Ascaris
worms." I had seen something that was not in the textbook manual
for dissecting a cat. Parasites stuck in the trachea are certainly not
normal and the very thought of them being coughed or sneezed out
of my own trachea sent shudders through me. Three years later I was
a teaching assistant at Indiana University and wandering around from
table to table in a comparative anatomy course. This time the students
were dissecting fetal pigs and I was looking at the location of carotid
arteries. Students would call me over, asking "Is this it?" Their uncer-
tainty was raised by the difference between the ideal, found in an
illustration in a dissection manual, and the reality that virtually no
two carotid arteries looked ahke. Sometimes they were closer to the
surface and sometimes they were buried in muscle. Sometimes the
carotid arteries looked thinner than the illustration and sometimes
they looked bloated. They also differed in how they responded to
the formaldehyde injected into them. And they showed variations in
where they branched.
What struck me, as I attended two different sections I was teach-
ing during the week, was how much diversity there was in the fetal pig.
I reasoned that this anatomical diversity must also apply to other organ-
isms and certainly to humans. Just a few years earlier, as one student

social research Vol. 78 : No. 2 : Summer 2011 349

working with one specimen, I had thought my particular embalmed cat
was the type specimen except for unwanted things like parasites.

THE BIOLOGICAL BASIS OF HUMAN VARIATION

When I began doing research on fruit flies in H. J. Müller's laboratory at
Indiana Universify, I struggled to see the subtle differences in body color,
bristle length, bristle thickness, and wing venation. MuUer once told
several of us who were concerned about this problem that it was a ques-
tion of familiarify. He told us: "If you walked into a group of students
and one of them had no nose, it would not take you long to notice that.
When you work a long time with fruit fiies, they become like people
and you see individual differences very rapidly." He was right. I can
now watch a fhiit fly land on my finger and without a lens I can tell if
it is a male or a female. Fmit fiies are only about one-eighth of an inch
in length. But genetics is a very sophisticated science and in the past
100 years or so much has been learned about the relation of the gene, a
sequence of nucleotides of DNA, and its expressed trait (Carlson 2004).
Some of those relations are easy. Alter the gene, it loses its function, and
a red-eyed fruit fly may appear white-eyed. Other genes may mutate to
produce brown-eyed flies; still other mutations may produce brilliant
orange-eyed flies. There are no blue-, green-, or yellow-eyed fmit flies.
It turns out there are two pigments, one formed by a biochemical path-
way leading to the browm-eyed pigment, and a different biochemical
pathway that leads to the formation of the orange-eyed pigment. The
white-eyed mutation is actually not a loss of the two pigments. It is an
inabilify to deposit the two pigments in the compound eyes of the fly.
The protein to which the pigments adhere is incapable of attaching the
pigments when the protein is altered.
What is not present is a continuous subtle shading of white
through pinks through darker pinks to red; eye color in fmit flies is not
a quantitative trait like height or weight, producing bell-shaped curves.
One reason for this is the threshold needed for defective enz5mies to
produce enough pigment to shift the color to the normal range. Even a
mutant gene at 10 percent capacify can produce enough of the pigment

350 social research

to establish a nearly red-eyed fiy. When we look at the normal parents
of a child with albinism, the parents betray no pigmentation differ-
ence from those who do not harbor that mutant gene for albinism.
Each parent's single dose of the normal gene is enough to provide full
pigment to the hair or skin ofthat parent. It is when the fertilized egg
bears two representatives of the defective gene for albinism that the
child expresses a lack of pigment in the hair and skin and the associ-
ated neurological effects that describe albinism.
This raises a very different question, one that is not biological but
social: What is meant by a genetic disorder? To the biologist the lack of
pigment when the typical situation is pigmentation is an abnormality.
An albino alligator, an albino giraffe, or an albino tiger stands out and
surprises the beholder, because in the experience of those who have
observed populations of alligators, giraffes, or tigers, these are rare. I
remember as a child how surprised I was growing up in Brooklyn to
see an albino cockroach scurrying around with its fellow brown cock-
roaches.
We may have difficulty defining what is normal among humans
but there is a huge quantitative distinction between the words "typi-
cal" and "atypical." When an unusual event is one in several tens of
thousands, it is atypical. But the problem is more than a quantitative
one. Consider the case of the cat with worms in its trachea. Virtually
no one would call that normal because it makes the cat sick and it is
obvious to everyone that worms do not normally cling in strands in the
tracheas of cats. But each of us harbors hundreds of varieties of bacteria
in our intestines. They are essential to the digestion process. If a virus
destroys most of them and we get a severe case of diarrhea, we realize
how important they are to us. Cows cannot digest their chewed grasses
without appropriate bacteria in their guts. Termites depend on proto-
zoa, which in turn depend on bacteria in the protozoa to digest wood,
and without this mutual dependency the termites would die.
We distinguish for ourselves those bacteria that are necessary for
life and those that are harmful because they cause disease. We use the
term "pathogenic" for typhoid, bubonic plague, or bacterial pneumo-

The Body as a Biological and Genetic Entity 351

nia and readily want them treated vwth antibiotics or barred from entry
into our bodies by vaccination. But we use the term "commensal" or
"symbiotic" for the good bacteria that we need to help digest our foods.
We also use the term "endosjmibiotic" for such organelles as mitochon-
dria in our cells, which have their own DNA and arose from incorpo-
rated bacteria. They share several chemical features with them, but
have resided for so long in our cells that many of their original genes
have disappeared or have been transferred to the cell nucleus. Some
of the proteins in their membranes also have a dual origin, part from
the genes of the nucleus and part from the genes of the mitochondria.
Lynn Margulis (1970) has argued that many organisms, as well as our
characteristic eukaryotic cells, owe their origins to such endosymbiotic
relations between different species merging into a single new species.
If we do think dualistically about that which harms us and that
which benefits us when it comes to alien life in our bodies, should we
also think that way about gene mutations? Some gene mutations cause
the m3TÍad of variations that make each fertilization a unique genotype
or collection of genes. We differ from virtually all other people bom. Even
identical twins have genetic differences that have arisen by the chance
mutations occurring in the two twins among their trillions of cells.
A child born with a severe metabolic error, such as Tay-Sachs
syndrome. Hurler syndrome, cystic fibrosis, sickle cell anemia, or
phenylketonuria, would have died prematurely before the 1970s. Today
some of these syndromes are treatable. The baby who has a confirmed
case of phenylketonuria, diagnosed by a Guthrie test given at birth, can
be put on a special diet low in phenylalanine and will avoid the severe
mental retardation that results from toxic doses of that amino acid
associated with the disease. But nothing can be done to save the life of
an infant vwth Tay-Sachs syndrome. Sickle cell anemia cannot be cured
by medications, though some of its eftects can be blunted and there is
the possibility of replacing mutant genes vdth normal genes from the
bone marrow of such children and introducing the altered cells back
into the marrow. Parents who have children vdth such genetic disor-
ders now have the hope of treatment if the illness is life-threatening or

352 social research

chronic and disabling. It would, however, be difficult to consider these
children "normal" unless we use that term as a social concept instead
of a medical or biological one. The fact that parents want to prevent
brain damage to their children with phenylketonuria suggests that
they consider their child abnormal in the same sense as the physician
or biologist would consider the child abnormal. The gene is mutant.
It causes an abnormal buildup of phenylalanine, which is toxic to the
developing brain. A special diet can prevent this and permit normalcy.
Not all of the variations we see in ourselves, plants, or other
animals are associated with genetic differences. For any given genotype
there is a range of expression infiuenced by the environment. This is
particularly true for quantitative traits such as size, weight, shape, and
length of life. These environmental variations are heavily affected by
food, temperature, exposure to infectious diseases, and the commu-
nity in which an organism grows. A gingko tree on a city sidewalk is
not as likely to be as robust as one grovwi in its typical surroundings
in Asia or in a city park. For humans, virtually all social behavior is
heavily influenced by environmental circumstances. Yet we recognize
some children are bom vwth impaired behaviors, including a capacity
to learn in children once described as mentally retarded or slow learn-
ers. No one has found an environmental way to raise the IQ. of infants
born v\âth Trisomy 21 (Dovm syndrome) to the normal range of 85-115.
They usually have IQ.scores of 45-75.
Children wdth Asperger syndrome or the more severe disorders
of autism have difficulties relating socially to others. AAThether psycho-
sis is genetic or environmentally caused, the changes in the brain make
it difficult for these people to function normally in society unless they
are heavily medicated. Changing the names of disorders may make
relatives feel better and it certainly helps self-esteem if stigmatizing
terms are replaced. A child with Hurler syndrome is not regarded
the same way today as when such children were described as having
gargoylism. DOWTI syndrome or Trisomy 21 is a preferable term to both
health providers and the families involved when compared with the
older term, "mongoloid idiot," a term reflective of racial bias of the late

The Body as a Biological and Genetic Entity 353

nineteenth century, but the biological reality of the particular disorder
does not disappear when it is renamed.

ABUSES OF HUMAN VARIATION

The hfe described by a biologist or experienced by a physician is very
different from the social lives we live. Popular beliefs about human
differences are fiawed by religious, cultural, or political beliefs about
human variation. They often result in sexism, bigotry, racism, and a
class-based spurious belief in the inferiority or superiority of others.
Such common beliefs have led to degeneracy theory in the eighteenth
and nineteenth centuries, to the eugenics movement of the early twen-
tieth century, and to the extremes of genocide in World War II (Carlson
2001: 39-56). As is often the case in social policy, those with such faulty
views of humanity seek a scientific justification for their beliefs. Terms
such as "personhood" are social and not biological; terms like "albi-
nism" or "phenylketonuria" are not social terms. A child bom with a
severe birth defect, such as imperforate anus, is not normal and left
untreated will die. A child born with a propensity to myopia will wear
glasses and may, like me, deliver lectures.
My abnormality is mild and was correctible wàth lenses. We learn
the limits of our variations because of the virtual absence of perfection
in any one single individual. Persons with myopia will not be pilots
on the commercial planes we fiy. Persons with red-green color defi-
ciency will not be good at occupations that demand color discrimina-
tion, whether that is picking strawberries amid green leaves or sorting
color-coded wires for computers and telephone relays.
The dangers of making distinctions among our human variations
are well illustrated by the past. Measures such as compulsory steriliza-
tion, isolation for life in asylums, or immigration laws based on alleged
biological inferiority or superiority are based less on science than vdsh-
ful thinking, class bigotry, racism, and other social philosophies that
have appeal to a significant segment of society that lacks both scientific
knowledge and the empathy we need to respond to human diversity in
all its forms.

354 social research

 The eugenics movement from the 1880s to 1940s was based on
good intentions with bad outcomes. The good intention for Francis
Galton and those who favored what was called "positive eugenics"
was the potential to shift human evolution to produce people who are
healthier, longer-lived, more talented, more intelligent, and possess
more caring personalities through selective breeding. The good inten-
tion for Charles Davenport and those who favored what was called
"negative eugenics" was the preservation of the human species
through a weeding process of persons claimed to be unfit for reproduc-
tion. Unfortunately, the favored persons in American positive eugen-
ics were often Babbitt-like, pious middle-class "solid citizens" selected
at counfy fairs in the United States (Witkowski 2008). The unfit were
impoverished kindreds, such as the Jukes in Ulster Counfy in New York
or the Tribe of Ishmael in Indiana and Illinois in the late nineteenth
century, who were replaced in the hierarchy of unfit people in the
1920s by immigrants from southern and eastern Europe: Serbs, Slavs,
Jews, Italians, and Balkan-state Mediterraneans considered unsuited for
immigration to the United States.

SEX, GENDER, AND THE BODY

The history of the feminist movement in Western civilization shows
a shifting attitude toward the roles of men and women in sociefy. In
part these roles are assigned by religion, the state, and the institu-
tions of the state, such as schools, businesses, and organizations. At
the same time, all societies have recognized the importance of rais-
ing a family, protecting children, widows, and those who cannot
provide for themselves. Sometimes the churches played these roles
and sometimes government taxes were used to provide poor houses
and other means of helping those without families who could take
on that responsibilify. But beyond the sociology of sex and gender in
sociefy there were attempts by religious writers, philosophers, physi-
cians, midwives, activists, and scientists to interpret what is male and
female and what are the qualities or obligations of being women or
men (Warnke 2011).

The Body as a Biological and Genetic Entity 355

 Biologists recognize that biological sex is complex and involves
anatomy, endocrinology, chromosomal karyotype, genes for sex
hormone production, genes for sex hormone reception into target
tissues, genes for the organogénesis of the internal and external genita-
lia, and genes for the conversion of the embryonic neutral gonads into
testes or ovaries. Most ofthat biological knowledge is very recent. All of
the biochemical and molecular insights are from the 1930s to the pres-
ent. The genetics is still being worked out from birth defects producing
intersex babies and from experimental studies of sex determination in
a wide variety of organisms, especially fruit fiies and mice. These stud-
ies reveal that the biological components of sex determination tell us
virtually nothing about the cultural expectations of what constitutes a
man or woman and their gender relations in society. You can predict
from an embryonic cell that is 46,XX (a cell with a total of 46 chromo-
somes, including the two X chromosomes found in normal females)
that it is overwhelmingly likely to be born a female. But if you have the
molecular tools and one of the two X chromosomes contains a work-
ing SRY gene (the testes-determining or sex-regulating gene) normally
found on a Y chromosome, you can predict that the baby will be bom
and identified as a male in all respects, save for an inability of his testes
to produce sperm. This means that being XX does not automatically
mean being female.
Nor is an XY karyotype automatically male because on rare occa-
sions the SRY gene in that Y mutates and when altered may not lead
the neutral gonads to produce testes. The baby bom will be identified
as a female. Those biologists who follow the medical conditions with
human intersexes and unexpected findings of the gonads and the geni-
talia will accept the reality that there are many genes involved in the
formation of the reproductive system. How these children are raised,
how they are assigned names and the attributes of a gender, are diffi-
cult for all involved (Fausto-Sterling 2000). We become very ambivalent
about whose decision we seek. Should parents defer until the child
becomes an adult? Even if they do, how do they work things out if there
are no nearby support groups with successful models of people who

356 social research

have lived with their sex ambiguities? Complicating the ethical issues
are the confiicting views of claimed knowledge. Some argue these early
hormonal influences on the embryo are irreversible on gender behav-
ior, and others argue that all gender is socially constructed and there
are no differences, behaviorally, between men and women except by
consensus. For a species that has lived over the past 25,000 generations
spread around the world, our scientiflc insights are at best 3 or 4 gener-
ations old. We still have a lot to learn but regardless of what we want to
know as scientifically reliable, we still have to live and act in the societ-
ies in which we are raised.

THE ROLE OF THE STATE

The state has a role to play. It can conscript men and women into mili-
tary service. It can demand quarantines or compulsory immunizations
for highly infectious pathogens. It can regulate medicine, industry, and
other components of society to assure the health and safety of its inhab-
itants. It can imprison those convicted of crimes. Capital crimes are
still associated vwth ordered executions carried out at state prisons. But
there are limits to the role of a state in a democracy like the United
States. It cannot regulate marriage by race. The state cannot prevent
individuals from using birth control methods they choose from those
deemed effective and safe. At the individual state level virtually all
compulsory sterilization laws based on eugenics have ceased, although
the 1927 Supreme Court Buck v. Bell decision has never been repealed
(Lombardo 2008). The court ruled in an 8-1 decision that states have the
right to order the sterilization of individuals who are legally considered
unfit to reproduce. Carrie Buck was the woman to be sterilized and
James H. Bell was the superintendent of the Commonwealth of Virginia
asylum where Buck resided. She and her daughter were both sterilized
after the Supreme Court decision.
There remains a tension between those who wish to exercise the
autonomy of their judgment on the uses of their bodies and those who
wish the state to regulate human behavior. In our generation it is fought
over stem cell research and its uses, fears of cloning humans (or parts

The Body as a Biological and Genetic Entity 357

or stages of the life cycle of humans) for almost any reason, genetic
modification to produce enhancement of skills, elective abortion, and
genetic services for infertility and prenatal diagnosis. Much of the fear
associated with new technologies disappears with usage. In 1980 a
child produced by fertilizing an egg in a dish was called a test tube baby.
Today it is a child conceived by in vitro fertilization (IVF), and millions of
infertile couples have voted for that IVF process rather than a childless
marriage or alternatives they do not desire (Cowan 2008). The struggle
has usually favored autonomy, informed consent, and greater options
for those vdth biological needs. The more we learn about our genomes,
our evolutionary history, and the capacity of science to manipulate our
biology at a molecular level, the more complex vdll be the debates on
the regulation of our bodies.

REFERENCES
Carlson, Elof Axel. The Unflt: A History of a Bad Idea. New York: Cold Spring
Harbor Laboratory Press, 2001.
. Mendel's Legacy: A History of Classical Genetics. New York: Cold Spring
Harbor Laboratory Press, 2004.
Cowan, Ruth Schwartz. Heredity and Hope: The Case for Genetic Saeening.
Cambridge: Harvard University Press, 2008.
Fausto-Sterling, Anne. Sexing the Body: Gender Politics and the Construction of
Sexuality. New York: Basic Books, 2000.
Lombardo, Paul. Three Generations, No Imbedles: Eugenics, the Supreme Court,
and Buck v. Bell. Baltimore: Johns Hopkins University Press, 2008.
Margulis, Lynn. The Origin ofEukaryotic Cells. New Haven: Yale University
Press, 1970.
Wamke, Georgia. Debating Sex and Gender. New York: Oxford University
Press, 2011.
Witkowski, Jan. Davenport's Dream: 21st Century Reflections on Heredity and
Eugenics. New York: Cold Spring Harbor Laboratory Press, New
York, 2008.

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