Genetic mapping in human disease

Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the intellectual foundations of genetic mapping of Mendelian and complex traits in humans, examine lessons emerging from linkage analysis of Mendelian diseases and genome-wide association studies of common diseases, and discuss questions and challenges that lie ahead.     

Dermatosparaxis in two White Dorper lambs

Abstract

CASE HISTORY AND CLINICAL FINDINGS: Two White Dorper lambs from the North Island of New Zealand, 2 and 4 weeks of age, were presented with large skin flaps hanging from the flanks, separation of skin from the subcutis over mobile joints, and de-gloving injuries of the limbs and tail. The lambs were subject to euthanasia on humane grounds.

PATHOLOGICAL FINDINGS: Large skin tears with associated haemorrhage, periarticular S/C oedema and generalised skin fragility were observed in both lambs at post-mortem examination. Histology of the affected skin revealed diffuse hyalinisation of dermal collagen compared with control lambs, protein-filled peri-adnexal clefts and areas of deep dermal and S/C granulation tissue consistent with previous separation of skin from the subcutis. Analysis of hair follicles, collected from one of the lambs, using a commercially available genetic test in Australia was consistent with the lamb being homozygous for the mutation responsible for ovine dermatosparaxis.

DIAGNOSIS: Likely dermatosparaxis.

CLINICAL RELEVANCE: These findings strongly suggest that the mutation responsible for dermatosparaxis in White Dorper sheep is present in New Zealand. Dermatosparaxis should be considered when investigating skin fragility in lambs with White Dorper genetics. Confirmation of the disorder is possible through genetic analysis of hair follicles.     

Seroprevalence of Toxoplasma gondii in mainland and sub-Antarctic New Zealand sea lion (Phocarctos hookeri) populations

AIMS: To investigate the seroprevalence of antibodies to Toxoplasma gondii in New Zealand sea lions (Phocarctos hookeri), as a potential contributor to reproductive failure.

METHODS: Archived sera were sourced from New Zealand sea lions from two recolonising mainland populations in the Otago Peninsula (n=15) and Stewart Island (n=12), as well as a declining population at Enderby Island (n=28) in the New Zealand sub-Antarctic. Sera were tested for antibodies to T. gondii using a commercially available ELISA (with samples considered positive if the sample to positive ratio was?>30%), and latex agglutination test (LAT; with titres ≥1:32 considered positive). Western blot analysis was used to validate the results of a subset of 14 samples.

RESULTS: Five samples from sea lions in mainland locations were confirmed positive for antibodies to T. gondii. Two adult females exhibited high LAT antibody titres (min 1:2048, max 1:4096) on both occasions when sampled 1 and 2 years apart, respectively. No animals from Enderby Island were seropositive.

CONCLUSIONS: Toxoplasma gondii infection is unlikely to be a major contributor to poor reproductive success in New Zealand sea lions. However, continued surveillance is pertinent to assess subclinical and clinical impacts of the parasite on these threatened populations. The commercial tests evaluated here, with further species-specific threshold refinement could provide a fast, inexpensive and reliable indicator of T. gondii exposure in New Zealand sea lions.     

The structure of the upper atmosphere of mars: In situ accelerometer measurements from mars global surveyor

The Mars Global Surveyor (MGS) z-axis accelerometer has obtained over 200 vertical structures of thermospheric density, temperature, and pressure, ranging from 110 to 170 kilometers, compared to only three previous such vertical structures. In November 1997, a regional dust storm in the Southern Hemisphere triggered an unexpectedly large thermospheric response at mid-northern latitudes, increasing the altitude of thermospheric pressure surfaces there by as much as 8 kilometers and indicating a strong global thermospheric response to a regional dust storm. Throughout the MGS mission, thermospheric density bulges have been detected on opposite sides of the planet near 90 degreesE and 90 degreesW, in the vicinity of maximum terrain heights. This wave 2 pattern may be caused by topographically-forced planetary waves propagating up from the lower atmosphere.     

The focusing of electron flow and a Veselago lens in graphene p-n junctions

The focusing of electric current by a single p-n junction in graphene is theoretically predicted. Precise focusing may be achieved by fine-tuning the densities of carriers on the n- and p-sides of the junction to equal values. This finding may be useful for the engineering of electronic lenses and focused beam splitters using gate-controlled n-p-n junctions in graphene-based transistors.     

Genetic diversity,phylogenetic position and morphometric analysis of Astacus colchicus (Decapoda,Astacidae): a new insight into Eastern European crayfish fauna

The phylogeny of European crayfish fauna, especially with respect to Eastern European species, is still far from being completely resolved. To fill this gap, we analyzed most of the European crayfish species focusing on the phylogenetic position of the endemic crayfish Astacus colchicus, inhabiting Georgia. Three mitochondrial and one nuclear marker were used to study evolutionary relationships among European crayfish species, resulting in the unique phylogenetic position of A. colchicus indicating independent species status to A. astacus. Phylogenetic analyses revealed a deep molecular divergence of A. colchicus in comparison to A. astacus (6.5–10.9% in mtDNA and 1.1% in nDNA) as well as to Pontastacus leptodactylus and P. pachypus (5.5–10.0% in mtDNA and 1.4–2.4% in nDNA). Absent ventral process on second male pleopod and abdominal somites II and III with pleura rounded lacking prominent spines clearly indicate taxonomic assignment to the genus Astacus; however, the species is distributed almost in the middle of Ponto-Caspian area typical by occurrence of the genus Pontastacus. Several morphological indices linked to head length, carapace, and total body length and width were found to demonstrate apparent differences between A. colchicus and A. astacus. Although this study provides a novel insight into European crayfish phylogeography, we also point out the gaps in comprehensive study of the P. leptodactylus species complex, which could reveal details about the potential species status of particular species and subspecies within this genus.     

Prevention of Toxoplasma gondii abortion in goats by vaccination with oocysts of Hammondia hammondi

Nineteen does (female goats) were dosed with 500,000 oocytes of Hammondia hammondi prior to breeding. At about 90 days of gestation these, and 18 uninoculated does were challenged with 25,000 Toxoplasma gondii oocysts. The 19 H. hammondi--inoculated does produced 26 live and one dead kid (newborn goat). The 18 does not given H. hammondi produced 12 live and 19 dead kids. However, examination of all of the kids by isolation of T. gondii in mice, serology and histology revealed that they were all infected with T. gondii. Thus, while H. hammondi "vaccination" is protective against the deleterious effects of T. gondii on pregnant does, perhaps by reducing the severity of placental lesions, it does not prevent foetal infection.