A Second Gene for Cerulean Cataracts Maps to the β Crystallin Region on Chromosome 22

Congenital cataracts are one of the most common major eye abnormalities and often lead to blindness in infants. At least a third of all cases are familial. Within this group, highly penetrant, autosomal dominant forms of congenital cataracts (ADCC) are most common. ADCC is a genetically heterogeneous group of disorders, in which at least eight different loci have been identified for nine clinically distinct forms. Among these, Armitageet al.(Nature Genet.9: 37–40, 1995) mapped a gene for cerulean blue cataracts to chromosome 17q24. Bodkeret al.(Am. J. Med. Genet.37: 54–59, 1990) described a large family with cerulean blue cataracts, in which the affected daughter of affected first cousins was presumed to be homozygous for the purported gene. We report linkage in this family to the region on chromosome 22q that includes two β crystallin genes (CRYBB2, CRYBB3) and one pseudogene (CRYBB2P1). The affected female in question is homozygous at all markers.     

Suppression of programmed neuronal death by a thapsigargin-induced Ca2+ influx

Rat sympathetic neurons undergo programmed cell death (PCD) in vitro and in vivo when they are deprived of nerve growth factor (NGF). Chronic depolarization of these neurons in cell culture with elevated concentrations of extracellular potassium ([K⁺]_o) prevents this death. The effect of prolonged depolarization on neuronal survival is thought to be mediated by a rise of intracellular calcium concentration ([Ca²⁺]_i) caused by Ca²⁺ influx through voltage-gated channels. In this report we investigate the effects of chronic treatment of rat sympathetic neurons with thapsigargin, an inhibitor of intracellular Ca²⁺ sequestration. In medium containing a normal concentration of extracellular Ca²⁺ ([Ca²⁺]_o), thapsigargin caused a sustained rise of intracellular Ca²⁺ concentration and partially blocked death of NGF-deprived cells. Elevating [Ca²⁺]_o in the presence of thapsigargin further increased [Ca²⁺]_i, suggesting that the sustained rise of [Ca²⁺]_i was caused by a thapsigargin-induced Ca²⁺ influx. This treatment potentiated the effect of thapsigargin on survival. The dihydropyridine Ca²⁺ channel antagonist, nifedipine, blocked both a sustained elevation of [Ca²⁺]_i and enhanced survival caused by depolarization with elevated [K⁺]_o, suggesting that these effects are mediated by Ca²⁺ influx through L-type channels. Nifedipine did not block the sustained rise of [Ca²⁺]_i or enhanced survival caused by thapsigargin treatment, indicating that these effects were not mediated by influx of Ca²⁺ through L-type channels. These results provide additional evidence that increased [Ca²⁺]_i can suppress neuronal PCD and identify a novel method for chronically raising neuronal [Ca²⁺]_i for investigation of this and other Ca²⁺-dependent phenomena. © 1995 John Wiley & Sons, Inc.     

Polymorphic Admixture Typing in Human Ethnic Populations

A panel of 257 RFLP loci was selected on the basis of high heterozygosity in Caucasian DNA surveys and equivalent spacing throughout the human genome. Probes from each locus were used in a Southern blot survey of allele frequency distribution for four human ethnic groups: Caucasian, African American, Asian (Chinese), and American Indian (Cheyenne). Nearly all RFLP loci were polymorphic in each group, albeit with a broad range of differing allele frequencies (δ). The distribution of frequency differences (δ values) was used for three purposes: (1) to provide estimates for genetic distance (differentiation) among these ethnic groups, (2) to revisit with a large data set the proportion of human genetic variation attributable to differentiation within ethnic groups, and (3) to identify loci with high δ values between recently admixed populations of use in mapping by admixture linkage disequilibrium (MALD). Although most markers display significant allele frequency differences between ethnic groups, the overall genetic distances between ethnic groups were small (.066–.098), and <10% of the measured overall molecular genetic diversity in these human samples can be attributed to “racial” differentiation. The median δ values for pairwise comparisons between groups fell between .15 and .20, permitting identification of highly informative RFLP loci for MALD disease association studies.     

Shifting Narratives and Mutable Meanings

In and Out of Africa . 1993. 59 minutes, color. A film by Ilisa Barbash and Lucien Taylor. For information contact University of California Extension Center for Media and Independent Learning, 2000 Center Street, Fourth Floor, Berkeley, CA 94704, 510–642–0460.     

Inhibition of cuticular lipid synthesis and its effect on insect survival

A new approach to insect control—using sodium trichloroacetate (NaTCA) to inhibit synthesis of the hydrophobic cuticular lipids that protect insects from dehydration—was tested on Triatoma infestans. In vivo and in vitro studies of incorporation of radioactive precursors showed diminished cuticular hydrocarbon synthesis after NaTCA treatment. Thin layer chromatography and scanning electron microscopy showed disruption of the cuticular lipid layer of NaTCA-treated insects, which also have increased mortality and altered molting cycles. NaTCA treatment enhanced the penetration and increased the lethality of a contact insecticide. © 1994 Wiley-Liss, Inc.     

Hydrocarbon biosynthesis in Triatoma infestans eggs

Triatoma infestans eggs are shown to synthesize hydrocarbons. Radio-gas chromatography was used to demonstrate metabolism of [1-¹⁴C]propionate into precursor methyl-branched fatty acids and into methyl-branched hydrocarbons in T. infestans eggs. These reactions have not been demonstrated previously in insect eggs. An in vivo study showed that hydrocarbons are also transported to eggs by the hemolymph. Inhibition of hydrocarbon synthesis by sodium trichloroacetate (NaTCA) was correlated with reduced oviposition, reduced hatchability, and reduced insect survival. Scanning electron microscopy showed impoverishment of the eggs' epicuticular waxes following NaTCA treatment. © 1994 Wiley-Liss, Inc.     

The interaction of the vanadyl(IV) cation with phytic acid

The interactions of VO²⁺ with phytate to form both soluble and insoluble complexes, have been studied by electronic absorption spectroscopy. A soluble 1∶1 VO²⁺: phytate complex is formed at pH <1. At higher pH-values insoluble complexes are produced. Two different solid complexes, obtained respectively at pH=2 and 4, were isolated and characterized. The maximal bonding ratio of VO²⁺: phytate was found to be 4, on the basis of a pH binding profile.     

Agave studies in Yucatan,Mexico. II. Nutritional value of the inflorescence peduncle and incipient domestication

Recent ethnobotanical exploration of henequen (Agave fourcroydes) in the Peninsula of Yucatan, Mexico, finds that inflorescence peduncles are used as emergency food and in the preparation of a fermented drink. Bromatological analysis and determination of total carbohydrates were made for the two length classes (ca. 3.30 m and ca. 0.60 m) which are consumed. The analysis of both the cultivated plant and its putative wild ancestor (Agave angustifolia) suggests that utilization of the inflorescence peduncles as food may have been involved in the initial stages of the history of its evolution under artificial selection, because the wild and the cultivated plants have similar palatability. The subsequent agricultural prevalence of annual crop species in the region was possibly responsible for the abandonment of henequen in the local diet. No significant differences are observed between the bromatological and total carbohydrate values of domesticated and wild plants. The preference for small inflorescence peduncles as a vegetable is a consequence of its significantly minor content of raw fiber and its larger content of total carbohydrates. As a fermented drink, longer peduncles are preferred because they provide more substrate material and because fiber can be eliminated by filtering. This agricultural byproduct, almost totally wasted, has potential value as a source of carbohydrates and raw fiber.