Inbreeding and genetic disease in Sottunga, Finland

The contribution of inbreeding to the prevalence of recessive genetic diseases in the Aland Island parish of Sottunga is investigated. Genealogical data for 3,030 individuals spanning up to 15 generations were used to estimate inbreeding. This small island community shows a low average inbreeding value of .0031 for the period 1725-1975. A cohort analysis shows that inbreeding increased from 1750 to 1900, when maximum inbreeding for those born in Sottunga reached .0057. A sharp decline in inbreeding occurred thereafter. Individuals with island-born parents made the largest contributions to inbreeding in all time periods compared to those with one or two migrant parents. These trends are consistent with changing migration patterns and isolate breakdown in Aland since 1900. An analysis of pedigree development demonstrates that remote consanguinity contributed more to inbreeding through time than close consanguinity. Both the number of common ancestors and the number of paths of relationship between spouses increased dramatically through time, the latter at a much faster rate. The contribution to average inbreeding per path, however, diminished rapidly through time. This analysis indicates that inbreeding does not account for the high incidence of autosomal recessive disorders, such as tapetoretinal disease, found in the parish.     

Inbreeding in Southeastern Spain

In this paper, the structure of a southeastern Spanish population was studied for the first time with respect to its inbreeding patterns and its relationship with demographic and geographic factors. Data on consanguineous marriages (up to second cousins) from 1900 to 1969 were taken from ecclesiastic dispensations. Our results confirm that the patterns and trends of inbreeding in the study area are consistent with those previously observed in most non-Cantabrian Spanish populations. The rate of consanguineous marriages was apparently stable between 1900 and 1935 and then sharply decreased since 1940, which coincides with industrialization in Spain. A marked departure from Hardy-Weinberg expectations (0.25) in the ratio of first cousin (M22) to second cousin (M33) marriages in the study population (0.88) was observed. The high levels of endogamy (>80%) and its significant steadiness throughout the twentieth century is noteworthy. Accordingly, our results show that exogamous marriages were not only poorly represented but also that this reduced mobility (<6 km) suggests that the choice of a mate was preferentially local. We found higher mobility in M22 with respect to M33 cousin mating. The relationships between population size and consanguinity rates and inbreeding fit power-law distributions. A significant positive correlation was observed between inbreeding and elevation. Many Spanish populations have experienced a prolonged and considerable isolation across generations, which has led to high proportions of historical and local endogamy that is associated, in general, with high \( \overline{F} \) values. Thus, assessing genomic inbreeding using runs of homozygosity (ROH) in current Spanish populations could be an additional pertinent strategy for obtaining a more refined perspective regarding the population history inferred from the extent and frequency of ROH regions.     

Inbreeding in recessive diseases

Summary The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed:cystic fibrosis: 1.4%cystinosis: 7.1%nephronophtisis: 5.6%spinal muscular atrophy: 4.5%albinsism: 5.0%achromatopsia: 12.5%(Albinism and spinal muscular atrophy are heterogeneous conditions). The increase in the frequency of first cousin marriages relative to that of the general population is much greater, as expected, in cystinosis, which is a rare disease, than in cystic fibrosis, which is the most frequent recessive disorder in France.Inbreeding in cystinosis and cystic fibrosis was also studied by computing the distance between parental birth places. This distance is smaller in cystinosis than in cystic fibrosis.     

Inbreeding avoidance in chimpanzees

In a community of chimpanzees in Gombe National Park, females' associations with their previous closest male associates (usually maternal siblings) dropped abruptly when they commenced full oestrous cycles, in some cases because the females changed their range within their natal community. Sexual activity was very infrequent between maternal siblings and between mothers and sons. Whereas males remained in their natal community all their lives, most or all females transferred to other communities during adolescence either permanently or temporarily. Inter-community transfer by females apparently resulted from attraction to unfamiliar males. Thus inbreeding appears to be avoided in this species as a consequence of reduced sexual attraction between individuals who were familiar with each other in immaturity.     

Inbreeding avoidance in animals

The phenomenon of inbreeding depression is well documented and behavioral adaptations for inbreeding avoidance have been described. However, there is debate over whether inbreeding depression is always an important selective force on behavior. Here, we summarize recent evidence for inbreeding depression under natural conditions, review inbreeding avoidance mechanisms, and discuss how these are influenced by social structure. We also examine the idea that animals have evolved mechanisms to avoid outbreeding.     

Inbreeding and endogamy in Tatarstan

The random inbreeding (F(ST)) and local inbreeding (a) values have been calculated for populations of the district and rural municipality ranks of 16 and 13 raions (administrative districts) of Tatarstan, Russia, respectively. The correlations between all inbreeding values are positive and vary from 0.38 to 0.80. The endogamy index has been calculated for populations of the district rank; it varies from 0.45 in Pestrechinskii raion to 0.74 in Aktanyshskii raion. Cartographic extrapolation of the endogamy indices has been performed.     

Inbreeding and endogamy in Tatarstan

The random inbreeding (F _st) and local inbreeding (a) values have been calculated for populations of the district and rural municipality ranks of 16 and 13 raions (administrative districts) of Tatarstan, Russia, respectively. The correlations between all inbreeding values are positive and vary from 0.38 to 0.80. The endogamy index has been calculated for populations of the district rank; it varies from 0.45 in Pestrechinskii raion to 0.74 in Aktanyshskii raion. Cartographic extrapolation of the endogamy indices has been performed.     

Individual Variation in Inbreeding Depression: The Roles of Inbreeding History and Mutation

We use mutation-selection recursion models to evaluate the relative contributions of mutation and inbreeding history to variation among individuals in inbreeding depression and the ability of experiments to detect associations between individual inbreeding depression and mating system genotypes within populations. Poisson mutation to deleterious additive or recessive alleles generally produces far more variation among individuals in inbreeding depression than variation in history of inbreeding, regardless of selfing rate. Moreover, variation in inbreeding depression can be higher in a completely outcrossing or selfing population than in a mixed-mating population. In an initially random mating population, the spread of a dominant selfing modifier with no pleiotropic effects on male outcross success causes a measurable increase in inbreeding depression variation if its selfing rate is large and inbreeding depression is caused by recessive lethals. This increase is observable during a short period as the modifier spreads rapidly to fixation. If the modifier alters selfing rate only slightly, it fails to spread or causes no measurable increase in inbreeding depression variance. These results suggest that genetic associations between mating loci and inbreeding depression loci could be difficult to demonstrate within populations and observable only transiently during rapid evolution to a substantially new selfing rate.     

Inbreeding in the Thoroughbred horse

Changes in the inbreeding coefficient, F, in the Thoroughbred horse over the past 45 years have been investigated by genotyping 467 Thoroughbred horses (born between 1961 and 2006) using the Illumina Equine SNP50 bead chip, which comprises 54,602 SNPs uniformly distributed across the equine genome. The Spearman rank correlation coefficient, r, between the year of birth and F was estimated. The results indicate that inbreeding in Thoroughbreds has increased over the past 40 years, with r = 0.24, P < 0.001 demonstrating that there is a highly significant, though relatively weak correlation between the year of birth and inbreeding coefficients. Interestingly, the majority of the increase in inbreeding is post-1996 and coincides with the introduction of stallions covering larger numbers of mares.