Lake Tana large barbs diversity: Developmental and hormonal bases

Helerochronies caused by changes in the hormonal status are proposed to play a major role in the diversification of the Lake Tana barbs of Labeobarbus (=Barbus) genus (Dgebuadze and Mina, 2008). To test this hypothesis, we (i) compared temporal patterns of cranial development in L. intermedius, likely ancestral for Tana species flock, and L. brevicephalus and L. megastoma proposed to be paedomoiphic and peramoiphic, respectively; (ii) studied the role of thyroid hormone (TH) in the regulation of L. intermedius development; (iii) evaluated the effect of TH changes on the definitive morphology, and (iv) evaluated the possible role of TH in diversification of Tana barbs. Skull development was found to be heterochronicaily changed in L. brevicephalus and L. megastoma as compared to L. intermedius; revealed heteroclironies may account for differences in skull proportions distinguishing these barbs, TH was shown to play a major role in the regulation of ontogeny. Changes in TH level cause heterochronies in the development of a skull, axial skeleton, fins and fin girdles, squamation, and dentition. Heteroclironies were shown to influence adult morphology of these structures. These findings support the hypothesis of the involvement of developmental and hormonal factors in the diversification of the Lake Tana large barbs.     

Genetic adaptation to high altitude in the Ethiopian highlands

Background

Genomic analysis of high-altitude populations residing in the Andes and Tibet has revealed several candidate loci for involvement in high-altitude adaptation, a subset of which have also been shown to be associated with hemoglobin levels, including EPAS1, EGLN1, and PPARA, which play a role in the HIF-1 pathway. Here, we have extended this work to high- and low-altitude populations living in Ethiopia, for which we have measured hemoglobin levels. We genotyped the Illumina 1M SNP array and employed several genome-wide scans for selection and targeted association with hemoglobin levels to identify genes that play a role in adaptation to high altitude.

Results

We have identified a set of candidate genes for positive selection in our high-altitude population sample, demonstrated significantly different hemoglobin levels between high- and low-altitude Ethiopians and have identified a subset of candidate genes for selection, several of which also show suggestive associations with hemoglobin levels.

Conclusions

We highlight several candidate genes for involvement in high-altitude adaptation in Ethiopia, including CBARA1, VAV3, ARNT2 and THRB. Although most of these genes have not been identified in previous studies of high-altitude Tibetan or Andean population samples, two of these genes (THRB and ARNT2) play a role in the HIF-1 pathway, a pathway implicated in previous work reported in Tibetan and Andean studies. These combined results suggest that adaptation to high altitude arose independently due to convergent evolution in high-altitude Amhara populations in Ethiopia.     

Evaluation of kidney repair capacity using Tc-DMSA in ischemia/reperfusion injury models

Quantitative ^99mTc-DMSA renal uptake was studied in different renal ischemia/reperfusion (I/R) mice models for the assessment of renal repair capacity. Mice models of nephrectomy, uni- and bi-lateral I/R together with sham-operated mice were established. At 1 h, 1 d, 4 d, 1, 2 and 3 wk after I/R, ^99mTc-DMSA (27.7 ± 1.3 MBq) was injected via tail vein and after 3 h post-injection, the mice were scanned for 30 min with pinhole equipped gamma camera. Higher uptake of ^99mTc-DMSA was measured in normal kidneys of uni-lateral I/R model and nephrectomized kidney I/R model at 3 wk post-surgery. Comparing the restoration capacities of the affected kidneys of nephrectomy, uni- and bi-lateral I/R models, higher repair capacity was observed in the nephrectomized model followed by bi-lateral then uni-lateral models. The normal kidney may retard the restoration of damaged kidney in uni-lateral I/R model. Moreover, 3 wk after Uni-I/R, the size of injured kidney was significantly smaller than non-ischemic contralateral and sham operated kidneys, while nephrectomy I/R kidneys were significantly enlarged compared to all others at 3 wk post-surgery. Very strong correlation between ^99mTc-DMSA uptake and weight of dissected kidneys in I/R models was observed. Consistent with ^99mTc-DMSA uptake results, all histological results indicate that kidney recovery after injury is correlated with the amount of intact tubules and kidney sizes. In summary, our study showed good potentials of ^99mTc-DMSA scan as a promising non-invasive method for evaluation of kidney restoration after I/R injuries. Interestingly, mice with Bi-I/R injury showed faster repair capacity than those with uni-I/R.     

Role of thyroid hormone in the ontogeny and morphological diversification of <Emphasis Type="Italic">Barbus intermedius sensu</Emphasis> Banister, 1973 of Lake Tana in Ethiopia

The role of thyroid hormone in the ontogeny of the Large African barb Barbus intermedius sensu Banister, 1973 (Teleostei; Cyprinidae)—the presumed ancestral species for the species flock of the large African Barbs of Lake Tana (Ethiopia)—has been studied. It has been shown that the thyroid hormone influences the timing and rate of many morphogenetic processes and a change in its level causes heterochronies, affecting the definitive morphology of fish. Thus, it can be assumed that even a slight change in activity of the thyroid axis during ontogeny can be the cause of wide morphological variability in B. intermedius and may underlie explosive diversification of the species flock of Large African Barbs of Lake Tana.     

Variation in fatty acid composition of <Emphasis Type="BoldItalic">Arthrospira</Emphasis> (Spirulina) strains

A study of the fatty acid composition was made for 35 Arthrospira strains, concentrating on the most abundant fatty acids, the two polyunsaturated C₁₈ acids, linoleic and γ-linolenic acid, and palmitic acid. When grown at 30 ^∘C and low irradiance (10 μmol photon m⁻² s⁻¹), these three acids together formed 88–92% of total fatty acids. There were considerable differences in the composition of the two polyunsaturated acids. Depending on the strain, linoleic acid formed 13.1–31.5% and γ-linolenic acid formed 12.9–29.4% total fatty acids. In contrast, the range for palmitic acid was narrow: 42.3–47.6% of total fatty acids. Repeat experiments on several strains under defined conditions led to closely similar results for any particular environment, suggesting that fatty acid composition can be used as an aid in differentiating between strains. Five additional strains, which had apparently originated from the same original stock cultures as 3 of the 35 in the main study, but from different culture collections, were also assayed. With four strains the results were similar, irrespective of culture source, but with one strain marked differences occurred, especially in the polyunsaturated C₁₈ fatty acid fraction. These differences were independent of the age of the culture. In addition, straight morphotypes derived during repeat subcultures of four strains; each showed a similar fatty acid composition to that of the helical morphotypes of the same strains. A decrease in temperature from 30 to 20 ^∘C, an increase in irradiance (at 30 ^∘C) from 10 to 70 μmol photon m⁻² s⁻¹ and transfer to dark heterotrophy all favoured an increase in polyunsaturated C₁₈ fatty acids. The highest γ-linolenic acid content of any conditions was found for three strains grown heterotrophically on glucose in the dark at 30 ^∘C. A comparative study of six strains of Spirulina confirmed a previous study showing the absence of γ-linolenic acid in all Spirulina strains, thus permitting the separation of these two genera.     

Genetic prion disease: the EUROCJD experience

A total of 10–15% of human transmissible spongiform encephalopathies (TSEs) or prion diseases are characterised by disease-specific mutations in the prion protein gene (PRNP). We examined the phenotype, distribution, and frequency of genetic TSEs (gTSEs) in different countries/geographical regions. We collected standardised data on gTSEs between 1993 and 2002 in the framework of the EUROCJD collaborative surveillance project. Our results show that clinicopathological phenotypes include genetic Creutzfeldt–Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann–Sträussler–Scheinker disease (GSS). Genetic TSE patients with insert mutation in the PRNP represent a separate group. Point and insertional mutations in the PRNP gene varies significantly in frequency between countries. The commonest mutation is E200K. Absence of a positive family history is noted in a significant proportion of cases in all mutation types (12–88%). FFI and GSS patients develop disease earlier than gCJD. Base pair insertions associated with the Creutzfeldt–Jakob disease (CJD) phenotype, GSS, and FFI cases have a longer duration of illness compared to cases with point mutations and gCJD. Cerebrospinal fluid 14-3-3 immunoassay, EEG, and MRI brain scan are useful in the diagnosis of CJD with point mutations, but are less sensitive in the other forms. Given the low prevalence of family history, the term “gTSE” is preferable to “familial TSE”. Application of genetic screening in clinical practice has the advantage of early diagnosis and may lead to the identification of a risk of a TSE.Gábor G. Kovács and Maria Propolo Contributed equally