Wednesday, April 29, 2015

Consanguinity and incest can produce the same effects

I have noted before that Pedigrees and phylogenies are networks not trees. For example, a human family "tree" is a tree only if it includes one sex alone. Otherwise, it must be a network when traced backwards from any single individual through both parents, because the lineages must eventually coalesce in a pair of shared common ancestors.

This potentially creates a problem for maintaining genetic diversity within species. If a pedigree is tree-like, then each person would, for example, have 32 great-great-great grand-parents. These 32 people's genes are mixed more-or-less randomly (depending on recombination and assortment) to produce the great-great-great grand-child. This heterozygosity is a good thing, evolutionarily, because there is then genetic diversity within that person.

However, inbreeding turns a tree into a network. This increases the probability that identical alleles will be paired in any one individual. If deleterious recessive alleles are thereby expressed, then genetic problems can ensue, which is called inbreeding depression. However, this situation is not inevitable, but depends on the probability of alleles becoming paired. Indeed, for domesticated organisms, inbreeding is the norm (see Thoroughbred horses and reticulate pedigrees).

I have discussed examples of well-known historical figures who have encountered the unfortunate effects of inbreeding, including Charles Darwin (Charles Darwin's family pedigree network) and Henri Toulouse-Lautrec (Toulouse-Lautrec: family trees and networks). In both cases the problems arose because of consanguineous relationships, which involve people who are first cousins or more closely related.

I have also discussed the extreme case of consanguinity, incest. In particular, royalty have often been exempt from taboos against sibling and parent-child couplings, as noted in Tutankhamun and extreme consanguinity and also in Cleopatra, ambition and family networks. At least for Tutankhamun there is evidence of genetic problems (an accumulation of malformations is evident), but apparently not in Cleopatra's case (there is no convincing evidence of infertility, infant mortality or genetic defects, for example). Royalty have not been the only exceptions to the incest taboo (see Evolutionary fitness and incest).

In Tutankhamun's case it has been suggested that his mother was his father's (Akhenaten) sister (name not known), which is surprising, because only two wives of Akhenaten, Nefertiti and Kiya, are known to have had the title of Great Royal Wife, which the father of the royal heir should bear. As a way out of this dilemma, Marc Gabolde has suggested that the apparent genetic closeness of Tutankhamun's parents is because his mother was his father's first cousin, Nefertiti. The apparent genetic closeness is then not the result of a single brother-sister mating but instead is due to three successive instances of marriage between first cousins.

To explain this idea we can look at an actual example. An historical example of how consanguinity can produce the same genetic effects as incest is provided by the Spanish branch of the Habsburg dynasty in 1700, as discussed in Family trees, pedigrees and hybridization networks.

This example can be explained using inbreeding F values. For any specified offspring, these indicate the probability of paired alleles being identical by descent (ie. due to the close relationship of the parents). For close family relationships the F values are:
uncle-niece = aunt-nephew
double first cousins
first cousins
first cousins once removed
second cousins
Note that incest produces F values of 0.250 while consanguinity values are 0.063 or greater.

If we consider the case of King Charles II of Spain (1661-1700), then his inbreeding F = 0.254, which was achieved entirely without incestuous relationships. His pedigree is shown in the post Family trees, pedigrees and hybridization networks.

This pedigree shows that the parents of each person had the following relationships:

himself = uncle-niece [ie. his parents were uncle and niece]

father = first cousins once removed [ie. his father's parents were first cousins once removed]
mother = first cousins

father's father = (a) = uncle-niece
father's mother = (b) = uncle-niece
mother's father = first cousins
mother's mother = first cousins once removed

father's father's father = not closely related
father's father's mother = first cousins
father's mother's father = not closely related
father's mother's mother = not closely related
mother's father's father = uncle-niece
mother's father's mother = second cousins
mother's mother's father = see person (a)
mother's mother's mother = see person (b)

Thus, on his father's side he was the third generation of consecutive consanguinity, and on his mother's side he was the fourth generation of consecutive consanguinity. This is simply an accumulating series of probabilities — consanguinity potentially produces problems and consecutive consanguinity simply increases the probability.

It is not surprising, then, that Charles suffered genetic problems (he was disfigured, physically disabled and mentally retarded) to such an extent that his royal lineage came to an end, and the Spanish branch of the Habsburg dynasty ceased to rule.

Incidentally, the scientist who devised the quantity F, Sewall Wright, himself had a rather high amount of inbreeding — his parents were first cousins.

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