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Having an abnormal number of digits occurs more frequently than you might think, 1 in every 500 births,

and it’s been going on for hundreds of years. The most famous case in history is that of Anne Boleyn. It
was rumored she always wore gloves because she was hiding a sixth finger. This was seen as a sign of a
witch, and it was one of the charges read against her before her beheading (amongst the charges of
adultery and incest). The fact that an extra appendage was used in 1536 to identify evil meant there
were prior occurrences of the same trait. Would an extra finger be more helpful or more cumbersome?
Which way would natural selection act?

Surprisingly, polydactyly is an autosomal dominant trait, but the allele frequency is now so low
that it is a rare condition. Another theory suggests that polydactyly is the result of mutations in a variety
of developmental genes in an individual (i.e. not heredity). One gene thought to be affected is the
LMBR1 gene, or limb region 1 protein homolog. It produces a protein used in regulating developmental
gene expression of the sonic hedgehog gene. This gene makes proteins for the hedgehog signaling
pathway in mammals that plays a role in organogenesis, especially the growth of digits on the distal
parts of limbs. If the LMBR1 gene is mutated, it can interrupt expression of the sonic hedgehog, affecting
limb patterning.

Although classified as an extra finger, the digit often doesn’t have a joint, but rather is an abnormal fork
from an established digit, thus making it a non-functional protrusion of soft tissue and some bone. Thus,
it is often removed at birth. With no joint, the extra digit is useless. With a joint, however, it might be
useful, and one might think natural selection would favor this extra, functional finger. Yet, the
occurrence of a functional joint is rarer than an extra flab of flesh. Perhaps this is due to a
developmental gene needing to be kept “on” longer than normal, and the longer it’s kept “on” by a
mutated expression gene, the closer the extra digit gets to a functioning digit. Since normal
development calls for this expression to cease early on, expression will shut down before a fully
functional additional digit can be formed, leading to a non-functional appendage more often than not.

At this point, we would think natural selection would select against a useless flap of skin. Without
a joint, it might be more of a hindrance to daily life. Humans helped selection with their ignorant
interpretation of additional digits. Physical anomalies were seen as physical manifestations of evil, so
oftentimes, these people would be shunned or put to death, both acting as crude forms of sexual
selection because that “deformed” person would not get the chance to spread his/her genes to
posterity.

In human populations, polydactyly is seen frequently among small communities in India and the
Old Order Amish in Pennsylvania. In the Amish population, polydactyly isn’t an independent occurrence,
but a symptom of Ellis-van Creveld syndrome (a type of dwarfism), a genetically inherited disorder.
There is such a high occurrence of this disorder (amongst others) in the Amish population because they
tend to marry within their community for generations, preventing new alleles from entering the gene
pool. This combined with genetic drift (random fixation or deletion of alleles over time in an isolated
population) and the founder effect decreases genetic variation in this population.

This condition, however, is not unique to humans. It can be seen in small mammals, such as dogs,
mice, cats and moles. Talpid moles were thought to have six digits on each foot, but in actuality, it is an
outgrowth of the radial sesamoid bone, or a wrist bone. Like the human flaps, this “digit” although it has
bone, does not have a joint, so it can’t be a real finger. The development of the extra digit occurs during
development after the five true fingers develop, giving another possibility to the development of the
anomaly in humans. Natural selection has put positive pressure on this type of mole because the sixth
digit assists in digging, so the talpid mole is quite common. In humans, however, we don’t need to dig
and there is no inherent advantage to an extra digit, so it appears natural selection is working in reverse
compared to its operations with moles.

Our fascination with extra digits lead to the exhumation of Anne Boleyn in the reign of Queen
Victoria (late 1800s). Anne, in fact, did not have polydactyly. It was just another weak accusation to
depose her so Henry VIII could move onto another woman. Although the origins of polydactyly are not
specifically known, it’s very much around, since it’s hard to get rid of traits/alleles (if, indeed it is
hereditary) with low frequencies.