Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

DNA haplotype data from the phenylalanine hydroxylase (PAH) locus are available from a number of European populations as a result of RFLP testing for genetic counseling in families with phenylketonuria (PKU). We have analyzed data from Hungary and Czechoslovakia together with published data from five additional countries--Denmark, Switzerland, Scotland, Germany, and France--representing a broad geographic and ethnographic range. The data include 686 complete chromosomal haplotypes for eight RFLP sites assayed in 202 unrelated Caucasian families with PKU. Forty-six distinct RFLP haplotypes have been observed to date, 10 unique to PKU-bearing chromosomes, 12 unique to non-PKU chromosomes, and the remainder found in association with both types. Despite the large number of haplotypes observed (still much less than the theoretical maximum of 384), five haplotypes alone account for more than 76% of normal European chromosomes and four haplotypes alone account for more than 80% of PKU-bearing chromosomes. We evaluated the distribution of haplotypes and alleles within these populations and calculated pairwise disequilibrium values between RFLP sites and between these sites and a hypothetical PKU "locus." These are statistically significant differences between European populations in the frequencies of non-PKU chromosomal haplotypes (P = .025) and PKU chromosomal haplotypes (P much less than .001). Haplotype frequencies of the PKU and non-PKU chromosomes also differ significantly (P much less than .001. Disequilibrium values are consistent with the PAH physical map and support the molecular evidence for multiple, independent PKU mutations in Caucasians. However, the data do not support a single geographic origin for these mutations.(ABSTRACT TRUNCATED AT 250 WORDS)     

Vocal repertoire of the social Mashona mole-rat (Fukomys darlingi) and how it compares with other mole-rats

Vocalizations play a major role in communication of mammals with subterranean lifestyles since other senses are dramatically restricted in the environment of below ground burrows. In our study, we recorded vocalizations of 10 adult males and 10 adult females of a social bathyergid, the Mashona mole-rat (Fukomys darlingi) in different behavioural contexts. Vocalizations were divided into four categories according to behavioural contexts. Similar to other subterranean mammals, the range of Mashona mole-rat calls is shifted towards lower frequencies. We described 10 types of true vocal signals and 2 mechanical sounds. The vocal repertoire of the Mashona mole-rat is less rich compared to other social mole-rats, corresponding with its low mean family size. Interestingly, this species has a higher diversity in contact and distress calls, while using a relatively low number of aggressive signals.     

Seismic communication in demon African mole rat Tachyoryctes daemon from Tanzania

We describe the production of substrate-borne vibrations in a subterranean mole rat of the genus Tachyoryctes for the first time. These signals with a supposed communication function were recorded using two approaches. Firstly, we recorded the production of spontaneous substrate-borne vibrations of individual test animals in artificial tunnels simulating a mole rat burrow system. Secondly, we recorded substrate-borne vibrations in individuals with interconnected home systems divided by a barrier. We found that Tachyoryctes produces these seismic signals by striking its head against the ceiling of the tunnel. Two types of seismic signals differing in physical parameters were identified. A slow signal (inter-pulse distance 0.12 s, inter-bout distance 3.89 s, number of pulses within each bout 9.53) was produced in both experiments, whereas a fast signal (inter-pulse distance 0.05 s, inter-bout distance 18.44 s, number of pulses within each bout 22.54) was produced mainly in close proximity to another individual. Our results indicate that fast signals are probably individually specific, because the success rate of classification according to discriminant function analysis was 70.4 % for the three tested individuals.     

Genetic differences in milk proteins among laboratory rats (Rattus norvegicus)

Genetic differences in the electrophoretic pattern of milk proteins were observed among different inbred rat strains. The results of segregation analysis made on a limited number of females is consistent with the hypothesis of two codominant autosomal alleles system.     

Evolutionary history and species diversity of African pouched mice (Rodentia: Nesomyidae: Saccostomus)

We explore diversity of African pouched mice, genus Saccostomus (Rodentia, Nesomyidae), by sampling molecular and morphological variation across their continental‐scale distribution in southern and eastern African savannahs and woodlands. Both mitochondrial (cytochrome b) and nuclear DNA (IRBP, RAG1) as well as skull morphology confirm the distinction between two recognized species, S. campestris and S. mearnsi, with disjunct distribution in the Zambezian and Somali–Maasai bioregions, respectively. Molecular dating suggests the divergence of these taxa occurred in the Early Pliocene, 3.9 Ma before present, whereas the deepest divergences within each of them are only as old as 2.0 Ma for S. mearnsi and 1.4 Ma for S. campestris. Based on cytochrome b phylogeny, we defined five clades (three within S. campestris, two in S. mearnsi) whose species status was considered in the light of nuclear DNA markers and morphology. We conclude that S. campestris group consists of two subspecies S. campestris campestris (Peters, 1846; comprising two cytochrome b clades) and S. campestris mashonae (de Winton, 1897) that are moderately differentiated, albeit distinct in IRBP and skull form. They likely hybridize to a limited extent along the Kafue–Zambezi Rivers. Saccostomus mearnsi group consists of two species, S. mearnsi (Heller, 1910) and S. umbriventer (Miller, 1910), that are markedly differentiated in both nuclear markers and skull form and may possibly co‐occur in south‐western Kenya and north‐eastern Tanzania. Analysis of historical demography suggests both subspecies of S. campestris experienced population expansion dated to the Last Glacial. In the present range of S. campestris group, the distribution modelling suggests a moderate fragmentation of suitable habitats during the last glacial cycle, whereas in the range of S. mearnsi group it predicts substantial shifts of its occurrence in the same period.     

A Panicum-derived chromosomal segment captured by Hordeum a few million years ago preserves a set of stress-related genes

Intra-specific variability is a cornerstone of evolutionary success of species. Acquiring genetic material from distant sources is an important adaptive mechanism in bacteria, but it can also play a role in eukaryotes. In this paper, we investigate the nature and evolution of a chromosomal segment of panicoid (Poaceae, Panicoideae) origin occurring in the nuclear genomes of species of the barley genus Hordeum (Pooideae). The segment, spanning over 440 kb in the Asian Hordeum bogdanii and 219 kb in the South American Hordeum pubiflorum, resides on a pair of nucleolar organizer region (NOR)-bearing chromosomes. Conserved synteny and micro-collinearity of the segment in both species indicate a common origin of the segment, which was acquired before the split of the respective barley lineages 5–1.7 million years ago. A major part of the foreign DNA consists of several approximately 68 kb long repeated blocks containing five stress-related protein-coding genes and transposable elements (TEs). Whereas outside these repeats, the locus was invaded by multiple TEs from the host genome, the repeated blocks are rather intact and appear to be preserved. The protein-coding genes remained partly functional, as indicated by conserved reading frames, a low amount of non-synonymous mutations, and expression of mRNA. A screen across Hordeum species targeting the panicoid protein-coding genes revealed the presence of the genes in all species of the section Stenostachys. In summary, our study shows that grass genomes can contain large genomic segments obtained from distantly related species. These segments usually remain undetected, but they may play an important role in the evolution and adaptation of species.     

Burrow architecture,family composition and habitat characteristics of the largest social African mole-rat: the giant mole-rat constructs really giant burrow systems

Among African mole-rats, the giant mole-rat Fukomys mechowii is the largest social species. Despite several attempts to study a free-living population, information on its biology from natural habitats is very scarce. We mapped two neighbouring burrow systems of the giant mole-rat in a miombo woodland in Zambia. We provide information on the size and kin structure of the respective mole-rat families, architecture of their burrow systems, and characteristics of the food supply and soil around the two mapped and additional ten burrow systems. Both uncovered burrow systems were very large (total lengths, 2,245 and 743 m), making them the largest burrow systems ever mapped. Food resources around the additional ten burrow systems had a clumped distribution (standardized Morisita index of dispersion = 0.526), but a relatively high biomass (298 ± 455 g m⁻²). This, together with favourable soil conditions even in the advanced dry season (cone resistance, 328 ± 50 N m⁻²; soil density, 1.36 ± 0.06 g cm⁻³) indicates relatively hospitable ecological conditions. Both food supply and soil conditions were comparable with the conditions found in a miombo habitat of the solitary silvery mole-rat in Malawi. This suggests that there are no ecological constraints which would preclude the solitary life of a subterranean herbivore from the examined habitat. Microsatellite analysis supported the assumption that giant mole-rats live in monogamous multigenerational families with only one breeding pair of non-related animals and their offspring. The mean family size is consistent with previous findings on this species and comparable to that found in other Fukomys species studied thus far.     

Whole brain radiotherapy: Consequences for personalized medicine

Several studies focusing on brain irradiation are in progress. Reflecting updates of relevant outcomes in palliative treatment of patients suffering from brain metastases, the primary objective of these studies is the evaluation of neurocognitive function and quality of life. Improvements of technology in radiation oncology allows us to spare the hippocampal region while appropriately irradiating other parts of brain tissue. Irradiation of the hippocampus region is likely to lead to manifestations of adverse events with a subsequent impact on patient''s quality of life, which is in fact an improper approach in palliative medicine. Ongoing studies evaluate results of hippocampus avoiding radiotherapy compared to standard whole brain radiotherapy. Incorporation of neurocognitive function assessment may result in the confirmation of superiority of sparing the region of hippocampus and thus change current style of providing brain irradiation.