MODY 2: Mutation identification and molecular ancestry in a Brazilian family

Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of auto-antibodies. It accounts for 2–5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil.     

Patterns of prey utilization in a web of orb-weaving spiderAraneus pinguis (Karsch)

The pattern of prey utilization of the orb-weaving spider Araneus pinguis was studies by comparing between arthropods restrained in the empty webs (spiders were removed) and those unattacked in the intact webs (spiders were not removed). The number of arthropods was larger in the empty webs than in the intact webs. In the empty webs, web area, mesh width, number of radii, and signal thread length were presumed to affect the number of arthropods left in a single web. As for the intact webs, web area, mesh width, and web-exposure time were important factors. In the empty webs, the density of arthropods decreased away from the hub. On the other hand, the density of unattacked arthropods in the intact webs was the same throughout the web. Arthropods in the empty webs were larger than those in the intact webs. The upper limit in size of unattacked arthropods increased along with the distance from the hub in the intact webs, but not in the empty webs. These results indicate increase in the minimum size of eaten arthropods increased in the former. This positive sizedistance relation may have resulted from the adaptive switching of spiders’ alternative foraging methods (i.e., the rapid attack at encounter and the later eating during web deconstruction) on the basis of the prey profitability.     

The demography of the coelacanth Latimeria chalumnae

Synopsis The very sparse data that are available on the abundance, population structure and biology of the coelacanth Latimeria chalumnae off Grand Comoro are summarised, and some simple numerical analyses are carried out to explore certain aspects of the population dynamics, particularly the age-profile of the population. The object has not been to provide estimates of key demographic parameters, such as mortality rates, but to propose various scenarios that are useful for comparison with real data as they become available. The analysis also makes it possible to reach some preliminary conclusions that are relevant to the management of the coelacanth population. For instance, it appears that the catch rate of coelacanths by artisanal fishermen may have a negligible effect on coelacanth survivorship, and it is more likely that population size and structure are determined by natural mortality rates and birth rates. It is suggested that predation is the main cause of natural mortality and that the main predators of coelacanths are likely to be large sharks. Interference with the traditional patterns of the Comoran artisanal fishery may threaten the coelacanth. Several important gaps in our knowledge of coelacanth demography are identified.     

A biological sampling problem illustrated by the population structure and growth patterns of Sardinella aurita at Tripoli,Libya

Synopsis Sardinella aurita were sampled from catches of the lampara fishery at Tripoli, Libya during October 1979 through to September 1980. Landings consisted mainly of adult fish with large (mode 21–26 cm total length), relatively fast growing 3–5-group individuals in winter and spring and smaller (mode 14–20 cm total length), slow growing 2- and 3-group fish in summer. Gonad growth commenced in April, when the fish were feeding on zooplankton, and continued at the expense of mesenteric fat until July. It is suggested that the older and bigger fish spawn first, probably after having moved westwards, and that this results in spatial and temporal differences in length at age within the population. There was no consistent difference in growth rate between the sexes, but because first maturity in males tends to occur earlier than in females, there were length distribution differences between the sexes in the youngest (2+) age group as sampled.     

Ecological studies on the population of isaza,Chaenogobius Isaza Tanaka,in Lake Biwa,with special reference to the effects of population density upon its growth

1. In order to get the knowledge on the age composition of “isaza” population in Lake Biwa and the effect of population density on growth, monthly distribution of mean body length and mean body weight has been analyzed on the basis of monthly haul by “isazabiki” trawl during 1949 to 1953 and also 1960 to 1965.
2. There is no apparent sex difference in the growth in the first and second years of life.
3. “Isaza” population is composed of two age groups, age 0 and 1 groups (1+fish), the latter occupying by far the greater part in commercial catch.
4. During the growth season fishes of both ages feed mainly on zooplankton, though in winter frequently take chironomid larvae, gammaridae and others in volume.
5. The growth season falls in the period from April to October in both age groups.
6. A considerable yearly variation occurring in growth is in close connection with the fluctuation of population density of all ages.
7. The influence affected by the density of age 1 group is larger than that by age 0 group.

     

A possible discrepancy between the exposed and the whole population depending on range-size and trap-spacing in vole populations

Population Ecology - From a field study for the vole population (Clethrionomys rufocanus) in Hokkaido in the late summer of 1965, it has been proved that the range length may decrease from 25 to 18...     

Characterization of the length polymorphism in the A+T-rich region of the Drosophila obscura group species

Summary In the twelve Drosophila obscura group species studied, belonging to the affinis, obscura, and pseudoobscura subgroups, the mitochondrial DNA length ranges from 15.8 to 17.2 kb. This length polymorphism is mainly due to insertions/deletions in the variable region of the A+T-rich region. In addition, one species (D. tristis) possess a tandem duplication of a 470-bp fragment that contains the replication origin.The same duplication has occurred at least twice in the Drosophila evolutionary history due to the fact that the repetition is analogous to repetitions found in the four species of the D. melanogaster complex.By comparing the nucleotide sequence of the conserved region in D. ambigua, D. obscura, D. yakuba, D. teissieri, and D. virilis, we show the presence of a secondary structure, likely implied in the replication origin, which could favor the generation of this kind of duplications.Finally, we propose that the high A and T content in the variable region of the A + T-rich region favors the formation of less-stable secondary structures, which could explain the generation of minor insertion/deletions found in this region.Offprint requests to: A. Latorre     

我国大麦和性花叶病毒（BaMMV）研究初报

本文根据F(ab′)2－ELISA和ISEM实验,结合病毒粒子长度测定,报道了江苏省如东县农科所大麦黄花病毒源（吕种盐辐矮早3）中除存在大麦花花叶病毒（BaYMV）外,还复合感染大麦和性花叶病毒（BaMMV）,这是我国BaMMV的第一次报道。     

Mitochondria transfer into mouse ova by microinjection

A method for mitochondria isolation and interspecific transfer of mitochondria was developed in mice. Mitochondria were isolated from Mus spretus liver samples for microinjection into fertilized ova obtained from superovulated M. musculus domesticus females. Electron microscopic observations of mitochondria preparations used for microinjection demonstrated intact mitochondrial vesicles with little microsomal contamination. Species-specific nested PCR primers complementary to sequence differences in the mitochondrial DNA D-loop region revealed high rates of successful transfer of foreign mitochondria after isolation and injection into zygotes cultured through the blastocyst stage of embryonic development. Of 217 zygotes, 67 survived mitochondria injection and 23 out of 37 zygotes developed were at the blastocyst-stage of embryonic development after 4.5 days of in vitro culture. All 23 of these blastocysts contained detectable levels of foreign mitochondria. These results represent an initial step in developing a model system to study mitochondrial dynamics and development of therapeutic strategies for human metabolic diseases affected by aberrations in mitochondrial function or mutation     

布氏田鼠肥满度分析和小型兽类肥满度指标K与KWL（重长指标）的比较

通过对两个肥满度指标的理论和生物学意义分析,以及对布氏田鼠肥满度的研究和实际应用的讨论,认为描述动物的肥满度时,重长指标ＫＷＬ优于指标Ｋ。两指标的最大差别是成体的ＫＷＬ值大于幼体,而成体的Ｋ值小于幼体。布氏田鼠肥满度没有性别差异;有异著的年龄差异,成体鼠的肥满度高于幼鼠;有显著的季节变化,鼠种群春季肥满度最高,夏季降低,秋季回升;有显著的年际变化,高数量年的肥满度高于低数量年。