Reduced inbreeding depression due to historical inbreeding in Drosophila melanogaster: evidence for purging.

An important issue in conservation biology and the study of evolution is the extent to which inbreeding depression can be reduced or reversed by natural selection. If the deleterious recessive alleles causing inbreeding depression can be 'purged' by natural selection, outbred populations that have a history of inbreeding are expected to be less susceptible to inbreeding depression. This expectation, however, has not been realized in previous laboratory experiments. In the present study, we used Drosophila melanogaster as a model system to test for an association between inbreeding history and inbreeding depression. We created six 'purged' populations from experimental lineages that had been maintained at a population size of 10 male-female pairs for 19 generations. We then measured the inbreeding depression that resulted from one generation of full-sib mating in the purged populations and in the original base population. The magnitude of inbreeding depression in the purged populations was approximately one-third of that observed in the original base population. In contrast to previous laboratory experiments, therefore, we found that inbreeding depression was reduced in populations that have a history of inbreeding. The large purging effects observed in this study may be attributable to the rate of historical inbreeding examined, which was slower than that considered in previous experiments.

Low diversity in the major histocompatibility complex class II DRB1 gene of the Spanish ibex, Capra pyrenaica.

During the last two centuries, the Spanish ibex (Capra pyrenaica) has shown a significant demographic decline as a result of the progressive destruction of its natural habitat, disease epidemics, and uncontrolled hunting. Partial sequencing of the class II MHC DRB1 gene revealed that the Spanish ibex has remarkably low levels of genetic variation at this locus, with only six different DRB1 alleles and an observed heterozygosity of 0.429-0.579. The rates of nonsynonymous vs synonymous substitutions were significantly different in the peptide-binding region (dN/dS=5.347, P=0.002), a feature that indicates that the DRB1 gene is under positive selection. A phylogenetic analysis of the Spanish ibex and a set of domestic goat DRB1 alleles revealed that the reported sequences represent four major allelic lineages. The limited allelic repertoire of the DRB1 gene in the Spanish ibex is likely the direct result of the recent history of population bottlenecks and marked demographic decline of this species. A genetic survey of 13 microsatellite loci was consistent with this idea. The Spanish ibex subspecies C. p. hispanica and C. p. victoriae consistently showed considerably lower levels of microsatellite heterozygosity (Ho=0.184-0.231) and allelic diversity (mean number of alleles per locus=2-2.4) than those reported in other wild ruminants. This study demonstrates the significance of both natural selection and the demographic history of populations in determining patterns of genetic variation at MHC loci. In addition, our results emphasize the importance of locally adapted populations for the preservation of genetic diversity.

Characterization of the bovine BCL2L1 gene and related pseudogenes.

We have amplified and characterized partial regions of exons 2 and 3 of the bovine BCL2L1 gene, one of the anti-apoptotic members of the B-cell lymphoma 2 gene family. Cloning and sequencing of the amplified products revealed the existence of several BCL2L1-related sequences, including the bovine BCL2L1 gene and various processed pseudogenes. The bovine BCL2L1 gene revealed two polymorphic nucleotide sequences that resulted in two protein variants, with amino acid replacements at positions 60 and 69. In addition, we report three bovine BCL2L1-related sequences (BCL2L1psi) that probably correspond to intronless processed pseudogenes. These BCL2L1psi pseudogene sequences have accumulated multiple substitutions, deletions and insertions that translated into stop codons or changed the open reading frame of the functional gene. We provide evidence suggesting that the retro-transposition event that originated these processed pseudogenes took place before the divergence of the Cervidae and Bovidae families.

Indigenous domestic breeds as reservoirs of genetic diversity: the Argentinean Creole cattle.

Contrary to highly selected commercial breeds, indigenous domestic breeds are composed of semi-wild or feral populations subjected to reduced levels of artificial selection. As a consequence, many of these breeds have become locally adapted to a wide range of environments, showing high levels of phenotypic variability and increased fitness under natural conditions. Genetic analyses of three loci associated with milk production (alpha(S1)-casein, kappa-casein and prolactin) and the locus BoLA-DRB3 of the major histocompatibility complex indicated that the Argentinean Creole cattle (ACC), an indigenous breed from South America, maintains high levels of genetic diversity and population structure. In contrast to the commercial Holstein breed, the ACC showed considerable variation in heterozygosity (H(e)) and allelic diversity (A) across populations. As expected, bi-allelic markers showed extensive variation in He whereas the highly polymorphic BoLA-DRB3 showed substantial variation in A, with individual populations having 39-74% of the total number of alleles characterized for the breed. An analysis of molecular variance (AMOVA) of nine populations throughout the distribution range of the ACC revealed that 91.9-94.7% of the total observed variance was explained by differences within populations whereas 5.3-8.1% was the result of differences among populations. In addition, the ACC breed consistently showed higher levels of genetic differentiation among populations than Holstein. Results from this study emphasize the importance of population genetic structure within domestic breeds as an essential component of genetic diversity and suggest that indigenous breeds may be considered important reservoirs of genetic diversity for commercial domestic species.

Phylogenomic analysis of the alpha proteasome gene family from early-diverging eukaryotes.

We employed a phylogenomic approach to study the evolution of alpha subunits of the proteasome gene family from early diverging eukaryotes. BLAST similarity searches of the Giardia lamblia genome identified all seven alpha proteasome genes characteristic of eukaryotes from the crown group. In addition, a PCR strategy for the amplification of multiple alpha subunit sequences generated single alpha proteasome products for representatives of the Kinetoplastida (Leishmania major), the Parabasalia (Trichomonas vaginalis), and the Microsporidia (Vairimorpha sp., Nosema sp., Endoreticulata sp., and Spraguea lophii). The kinetoplastid Trypanosoma cruzi and the eukaryote crown group Acanthamoeba castellanii yielded two distinct alpha proteasome genes each. The presence of seven distinct alpha proteasome genes in G. lamblia, one of the earliest-diverging eukaryotes, indicates that the alpha proteasome gene family evolved rapidly from a minimum of one gene in Archaea to seven or more in Eukarya. Results from the phylogenomic analysis are consistent with the idea that the Diplomonida (as represented by G. lamblia), the Kinetoplastida, the Parabasalia, and the Microsporidia diverged after the duplication events that originated the alpha proteasome gene family. A model for the early origin and evolution of the proteasome gene family is presented.

The importance of control populations for the identification and management of genetic diversity.

A fundamental criterion for recognizing species or populations as potentially endangered is the presence/absence of genetic diversity. However, the lack of control populations in many studies of natural systems deprives one from unambiguous criteria for evaluating the genetic effects of small population size and its potential effects on fitness. In this study, I present an example of how the lack of adequate controls may lead to erroneous conclusions for understanding the role that population size may play in the preservation of genetic diversity and fitness of natural populations. The genetic analysis of a population of greater prairie chickens from Illinois, USA, between two time periods (1974-1987 and 1988-1993) in which the studied population experienced a substantial reduction in size and fitness showed no apparent associations between population size and genetic diversity. However, genetic analysis of museum specimens from early this century indicated that Illinois prairie chickens had originally higher levels of genetic diversity, which suggest the Illinois population was already bottlenecked by the 1970s. This study emphasizes the importance of using historical controls to evaluate the temporal dynamics of genetic variability in natural populations. The large number of museum collections worldwide may provide a valuable source of genetic information from past populations, particularly in species currently endangered as a result of human activities.

Phylogenetic relationships of Cheju horses to other horse breeds as determined by mtDNA D-loop sequence polymorphism.

Historical records suggest that horses inhabiting the island of Cheju in Korea are descendants of Mongolian horses introduced in 1276. Other studies, however, suggest that horses may have been present on the island prior to the Mongolian introduction. To determine the origin of the Cheju horses we used a phylogenetic analysis of sequences of the mitochondrial DNA (mtDNA) D-loop region, including tRNA Pro and parts of tRNA thr and tRNA Phe sequences (1102-bp excluding the tandem repeat region). Maximum parsimony and neighbor-joining trees were constructed using sequences determined for seven Cheju, four Mongolian, one Przewalskii and two Chinese Yunnan horses, and published sequences for one Swedish and three Thoroughbred horses. Donkey mtDNA was used as an outgroup. We found that the mtDNA D-loop sequence varies considerably within Mongolian, Cheju and Thoroughbred horse breeds, and that Cheju horses clustered with Mongolian horses as well as with horses from other distantly related breeds. On the basis of these findings we propose that horses on Cheju Island are of mixed origin in their maternal lineage, and that horses may have existed and been traded on the island before the Mongolian introduction.

The ghost of genetic diversity past: historical DNA analysis of the greater prairie chicken.

Most, if not all, of the "classic," often-cited examples illustrating the genetic effects of a population bottleneck are open to alternative explanations due to the lack of adequate control populations, that is, low levels of genetic variability are often assumed to be the result of a past population bottleneck without having any prebottleneck measures. Here we provide the first clear case history where both prebottleneck and postbottleneck measures of genetic variability have been collected from a natural system. Analysis of DNA from museum specimens of the greater prairie chicken Tympanuchus cupido from central Illinois revealed the loss of specific alleles (known to have been present earlier in this century) following a demographic contraction. Lost alleles included common ones present in all other populations sampled and others unique to the Illinois population.

The effects of herbivory on paternal fitness in scarlet gilia: better moms also make better pops.

Whether plants can benefit from the direct effects of herbivory has been contentious among ecologists and evolutionary biologists. Although previous studies have provided experimental evidence of enhanced maternal fitness following herbivory in a natural system, an accurate depiction of plant-herbivore interactions must include the effects of herbivory on male as well as female fitness. Here we show that ungulate herbivory on scarlet gilia results in an increase in paternal as well as maternal fitness. This study represents the first evidence of overcompensation in a natural system where both paternal and maternal components of fitness have been assessed.

[Gas dissection of the vertebral body or the vertebral intrasomatic space phenomenon. Physiopathological arguments]. / La dissection gazeuse du corps vertébral ou phénomène du vide intrasomatique vertébral. Arguments physiopathologiques.

Some features concerning the ischemic origin of the gaseous dissection of the vertebral body and the physiopathology of the necrose, are considered in the adult: --in the way, the anterior topography of vaccum phenomenon is on the model of the arterial distribution in the vertebral body, implying ischemic origin of gaseous dissection; --further, two cases of intravertebral vaccum cleft, noticed after minor trauma, suggest the major role of fractures at the origin of ischemia.