Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

Charcot-Marie-Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2. A related disorder in the mouse, trembler (Tr), maps to mouse chromosome 11 which has syntenic homology to human chromosome 17p. Recently, the peripheral myelin protein-22 (pmp-22) gene was identified as the likely Tr locus. We have constructed a partial yeast artificial chromosome contig spanning the CMT1A gene region and mapped the PMP-22 gene to the duplicated region. These observations further implicate PMP-22 as a candidate gene for CMT1A, and suggest that over-expression of this gene may be one mechanism that produces the CMT1A phenotype.     

Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

Celiac disease is probably the best-understood immune-related disorder. The disease presents in the small intestine and results from the interplay between multiple genes and gluten, the triggering environmental factor. Although HLA class II genes explain 40% of the heritable risk, non-HLA genes accounting for most of the familial clustering have not yet been identified. Here we report significant and replicable association (P = 2.1 x 10(-6)) to a common variant located in intron 28 of the gene myosin IXB (MYO9B), which encodes an unconventional myosin molecule that has a role in actin remodeling of epithelial enterocytes. Individuals homozygous with respect to the at-risk allele have a 2.3-times higher risk of celiac disease (P = 1.55 x 10(-5)). This result is suggestive of a primary impairment of the intestinal barrier in the etiology of celiac disease, which may explain why immunogenic gluten peptides are able to pass through the epithelial barrier.     

A radiation hybrid map of the rat genome containing 5,255 markers.

A whole-genome radiation hybrid (RH) panel was used to construct a high-resolution map of the rat genome based on microsatellite and gene markers. These include 3,019 new microsatellite markers described here for the first time and 1,714 microsatellite markers with known genetic locations, allowing comparison and integration of maps from different sources. A robust RH framework map containing 1,030 positions ordered with odds of at least 1,000:1 has been defined as a tool for mapping these markers, and for future RH mapping in the rat. More than 500 genes which have been mapped in mouse and/or human were localized with respect to the rat RH framework, allowing the construction of detailed rat-mouse and rat-human comparative maps and illustrating the power of the RH approach for comparative mapping.     

An abundance of X-linked genes expressed in spermatogonia

Spermatogonia are the self-renewing, mitotic germ cells of the testis from which sperm arise by means of the differentiation pathway known as spermatogenesis. By contrast with hematopoietic and other mammalian stem-cell populations, which have been subjects of intense molecular genetic investigation, spermatogonia have remained largely unexplored at the molecular level. Here we describe a systematic search for genes expressed in mouse spermatogonia, but not in somatic tissues. We identified 25 genes (19 of which are novel) that are expressed in only male germ cells. Of the 25 genes, 3 are Y-linked and 10 are X-linked. If these genes had been distributed randomly in the genome, one would have expected zero to two of the genes to be X-linked. Our findings indicate that the X chromosome has a predominant role in pre-meiotic stages of mammalian spermatogenesis. We hypothesize that the X chromosome acquired this prominent role in male germ-cell development as it evolved from an ordinary, unspecialized autosome.     

Common variation at 10p12.31 near MLLT10 influences meningioma risk

To identify susceptibility loci for meningioma, we conducted a genome-wide association study of 859 affected individuals (cases) and 704 controls with validation in two independent sample sets totaling 774 cases and 1,764 controls. We identified a new susceptibility locus for meningioma at 10p12.31 (MLLT10, rs11012732, odds ratio = 1.46, P(combined) = 1.88 × 10(-14)). This finding advances our understanding of the genetic basis of meningioma development.     

Mourning dove use of man-made ponds in a cold-desert ecosystem in Idaho

Mourning doves ( Zenaida macroura ) in a cold-desert ecosystem used man-made ponds for watering, feeding, gritting, loafing, and courting. Diurnal pond use by doves peaked in the morning and evening. Monthly dove use of ponds fluctuated slightly during the summers of 1984 and 1985. Pond size, pH, and shoreline characteristics had little association with the intensity of pond use by doves; but geographic isolation of ponds was weakly associated with pond-use intensity. The number of doves present at the beginning of the one-hour period was a poor indicator of the number of arrivals during that period. We conclude that man-made water sources are important in areas where water availability may limit mourning dove productivity and abundance. It is suggested that mourning dove arrival rates could be used as a population index in cold-desert areas.     

Pygmy rabbits in the Colorado River drainage

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Monoamine pathways to the cerebellum and cerebral cortex

Zusammenfassung In kombinierter histochemischer und biochemischer Untersuchung werden Dopamin-, Noradrenalin-und 5-Hydroxytryptamin-Neurone nach Entfernung von Cortex cerebri und Cerebellum studiert. Es ergibt sich, dass die Noradrenalin-Nerventerminale, welche Cortex cerebri und Cerebellum innervieren, vermutlich von feinen Axonen her stammen, deren Zellkörper mindestens zum Teil in der Formatio reticularis der Medulla oblongata gelegen sind. Die Noradrenalin-und 5-Hydroxytryptamin-Axone, die nach dem Cortex cerebri ziehen, passieren vermutlich zur Hauptsache das Cingulum.     

A rapid micro radial electrophoretic method of protein separation on cellulose acetate membranes.

A new rapid micromethod for protein separation under a radial electric field is described. As many as 12 rabbit serum samples could be separated in 4--6 min.