Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome

We describe a male infant with severe mental retardation and autism with a duplication of the short arm of the X chromosome. Chromosome painting confirmed the origin of this X duplication. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified one copy of the zinc finger protein on the X chromosome (ZFX) and two copies of the steroid sulfatase gene (STS), further delineating the breakpoints. Based on cytogenetic and molecular comparisons of cases from the literature of sex-reversal in dup(X),Y patients and our patient, we suggest that a possible secondary sexinfluencing gene involved in the regulation of sex determination or testis morphogenesis is present at the distal Xp21.1 to p21.2 region.     

Vertical distribution of planktonic rotifers in a karstic meromictic lake

Vertical distribution of planktonic rotifers is described in relation to temperature and oxygen in Lake La Cruz, a single-doline, closed karstic lake (121 m diameter and 25 m maximum depth) which shows iron meromixis. Samples were taken by peristaltic pumping at 10 cm depth intervals in the oxycline zone from June 1987 to September 1988. A model of rotifer vertical structure in stratified lakes is proposed. Rotifers concentrate their populations at the depths with intense gradients. As stratification develops some rotifer populations show a downward migration following the thermocline and some others show an upward migration following the oxycline. The production-respiration balance in the lake, and so the position of the oxycline with respect to the thermocline and the layer of maximum production, depends on meteorological conditions. A shift in the dominance of congeneric or related species can occur in consecutive years. In Lake La Cruz, mixing conditions and subterranean inflow in spring were much more intense in 1988 than 1987, and the distance between production and decomposition depths was smaller in 1988. Anuraeopsis miraclei, an oxycline-bound species with high abundance in 1987, was displaced by A. fissa in 1988. A. fissa, which was a metalimnetic species during early summer, reached peak densities (3 × 10⁴ ind l^–1) at the oxycline, equaling the abundance of A. miraclei the preceeding year.     

Effect of beta-N-oxalylamino-l-alanine on cerebellar cGMP level in vivo

Beta-N-oxalylamino-l-alanine (BOAA), a non-protein amino acid present in the seeds of Lathyrus Sativus (LS), is one of several neuroactive glutamate analogs reported to stimulate excitatory receptors and, in high concentrations, cause neuronal degeneration. In the present study, the in vivo acute effects of synthetic BOAA and LS seed extract were investigated on rat cerebellar cyclic GMP following intraperitoneal (10–100 mg/kg) or oral (100 mg/kg) administration of subconvulsive doses of toxin. Furthermore, the BOAA content in LS seeds and in the cerebellum of injected rats was determined by high performance liquid chromatograph analysis. A dose- and time-dependent increase of cerebellar cyclic guanosine monophosphate (cGMP) level was observed after intraperitoneal administration of synthetic BOAA or LS extract. The neurotoxin evoked a maximum stimulation 90 min after injection within the dose range of 50–75 mg/kg, elevating cGMP from basal levels of 5.3±0.5 pmol/mg protein to 15±1.3 pmol/mg protein. Similarly, the oral intake of LS-extracted neurotoxin resulted in the elevation of cGMP content. Kynurenic acid (300 mg/kg i.p.), a non specific excitatory amino acid antagonist, was effective in blocking LS BOAA-elicited cGMP enhancement. The data suggest that in the cerebellum acute administration of low concentrations of BOAA exert in vivo activation of glutamate receptors involved in the regulation of cGMP level.     

HomeRange: A global database of mammalian home ranges

Motivation

Home range is a common measure of use of space by animals because it provides ecological information that is useful for conservation applications. In macroecological studies, values are typically aggregated to species means to examine general patterns of use of space by animals. However, this ignores the environmental context in which the home range was estimated and does not account for intraspecific variation in home range size. In addition, the focus of macroecological studies on home ranges has historically been biased towards terrestrial mammals. The use of aggregated numbers and the terrestrial focus limit our ability to examine home-range patterns across different environments, their variation in time and variation between different levels of organization. Here, we introduce HomeRange, a global database with 75,611 home-range values across 960 different species of mammals, including terrestrial, aquatic and aerial species.

Main types of variables contained

The dataset contains estimates of home ranges of mammals, species names, methodological information on data collection, method of home-range estimation, period of data collection, study coordinates and name of location, in addition to species traits derived from the studies, such as body mass, life stage, reproductive status and locomotor habit.

Spatial location and grain

The collected data are distributed globally. Across studies, the spatial accuracy varies, with the coarsest resolution being 1°.

Time period and grain

The data represent information published between 1939 and 2022. Across studies, the temporal accuracy varies; some studies report start and end dates specific to the day, whereas for other studies only the month or year is reported.

Major taxa and level of measurement

Mammalian species from 24 of the 27 different taxonomic orders. Home-range estimates range from individual-level values to population-level averages.

Software format

Data are supplied as a comma-delimited text file (.csv) and can be loaded directly into R using the “HomeRange” R package ( https://github.com/SHoeks/HomeRange ).     

Molecular evolution of voltage-sensitive ion channel genes: on the origins of electrical excitability

We have analyzed nucleic acid and amino acid sequence alignments of a variety of voltage-sensitive ion channels, using several methods for phylogenetic tree reconstruction. Ancient duplications within this family gave rise to three distantly related groups, one consisting of the Na+ and Ca++ channels, another the K+ channels, and a third including the cyclic nucleotide-binding channels. A series of gene duplications produced at least seven mammalian homologues of the Drosophila Shaker K+ channel; clones of only three of these genes are available from all three mammalian species examined (mouse, rat, and human), pointing to specific genes that have yet to be recovered in one or another of these species. The Shaw-related K+ channels and the Na+ channel family have also undergone considerable expansion in mammals, relative to flies. These expansions presumably reflect the needs of the high degree of physiological and neuronal complexity of mammals. Analysis of the separate domains of the four-domain channels (Ca++ and Na+) supports their having evolved by two sequential gene duplications and implies the historical existence of a functional two-domain channel.      

mtDNA diversity in rhesus monkeys reveals overestimates of divergence time and paraphyly with neighboring species

Reconstructions of the human-African great ape phylogeny by using mitochondrial DNA (mtDNA) have been subject to considerable debate. One confounding factor may be the lack of data on intraspecific variation. To test this hypothesis, we examined the effect of intraspecific mtDNA diversity on the phylogenetic reconstruction of another Plio- Pleistocene radiation of higher primates, the fascicularis group of macaque (Macaca) monkey species. Fifteen endonucleases were used to identify 10 haplotypes of 40-47 restriction sites in M. mulatta, which were compared with similar data for the other members of this species group. Interpopulational, intraspecific mtDNA diversity was large (0.5%- 4.5%), and estimates of divergence time and branching order incorporating this variation were substantially different from those based on single representatives of each species. We conclude that intraspecific mtDNA diversity is substantial in at least some primate species. Consequently, without prior information on the extent of genetic diversity within a particular species, intraspecific variation must be assessed and accounted for when reconstructing primate phylogenies. Further, we question the reliability of hominoid mtDNA phylogenies, based as they are on one or a few representatives of each species, in an already depauperate superfamily of primates.      

Alteration of tobacco floral organ identity by expression of combinations of Antirrhinum MADS-box genes

Floral organ identity is largely controlled by the spatially restricted expression of several MADS-box genes. In Antirrhinum majus these organ identity genes include DEF, GLO and PLE . Single and double mutant analyses indicated that the type of organ found in a particular whorl is dependent on which combination of these genes is expressed there. This paper reports the ectopic expression of Antirrhinum organ identity genes, alone and in combinations, in transgenic tobacco. Although the phenotypes are broadly in agreement with the genetic predictions, several unexpected features are observed which provide information concerning the action of the organ identity genes. The presumed tobacco homologue of DEF, NTDEF , has been isolated and used to investigate the influence of ectopic expression of the Antirrhinum organ identity genes on the endogenous tobacco genes. Analysis of the spatial and temporal expression patterns of NTDEF and NTGLO reveals that the boundaries are not coincident and that differences exist in the regulatory mechanisms of the two genes concerning both induction and maintenance of gene expression. Evidence is provided which indicates that organ development is sensitive to the relative levels of organ identity gene expression. Expression of the organ identity genes outside the flower or inflorescence produced no effects, suggesting that additional factors are required to mediate their activity. These results demonstrate that heterologous genes can be used to predictably influence floral organ identity but also reveal the existence of unsuspected control mechanisms.