The effects of humic acid (HA) on nutrient accumulation and growth of tomato seedlings were evaluated in a solution of limited nutrient availability in a greenhouse. HA additions were made to the nutrient solution at rates of 0, 640, 1280, or 2560 mg/L. The addition of 1280 mg/L HA produced significant increases in shoot accumulation of P, K, Ca, Mg, Fe, Mn, and Zn as well as increased accumulation of N, Ca, Fe, Zn, and Cu in roots. Fresh and dry weights of roots were also increased, However, on comparing nutrient accumulation in plants treated with 1280 mg/L HA and those given an additional supply of nutrients equivalent to those supplied by HA at the 1280 mg/L rate, shoots accumulated more N, P, K, Fe, and Cu, while roots accumulated more K and Ca. Therefore these increases do not appear to be associated with nutrients contained in HA. Eectrolyte leakage, as an indication of membrane permeability, did not differ as a consequence of HA additions. However, electrolyte leakage correlated positively with HA rate. A shift in solution pH from 5.8 to 7.0 had no effect upon on nutrient accumulation or growth of tomato seedlings. The interaction of pH and addition of HA was not significant 1. Partial funding for this research is from U.S.D.A.

a-L-Iduronidase (IDUA; EC 3.2.1.76) is a lysosomal hydrolase in the metabolic pathway responsible for the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. A deficiency of IDUA in human leads to the accumulation of these glycosaminoglycans and results in the lysosomal storage disorder mucopolysaccharidosis type I. We have isolated and sequenced cDNA clones containing part ofthe human IDUA coding region and used PCR from reversetranscribed RNA to obtain the full IDUA sequence. Analysis of the predicted 653-amino acid precursor protein shows that IDUA has a 26-amino acid signal peptide that is cleaved immediately prior to the amino terminus of the 74-kDa polypeptide present in human liver IDUA. The protein sequence contains six potential N-glycosylation sites. Northern blot analysis with IDUA cDNA detected only a single 2.3-kilobase mRNA species in human placental RNA; however, PCR analysis of fibroblast, liver, kidney, and placental RNA showed the existence of alternatively spliced mRNA from the IDUA gene.Southern blot analysis failed to detect major deletions or gene rearrangements in any of the 40 mucopolysaccharidosis type I patients studied. Expression of a full-length IDUA cDNA construct in Chinese hamster ovary cells produced human IDUA protein at a level 13-fold higher than, and with a specific activity comparable to, IDUA present in normal human fibroblasts.

We examined cases of severe myoclonic epilepsy of infancy (SMEI) for exon deletions or duplications within the sodium channel SCN1A gene by multiplex ligation-dependent probe amplification. Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A.

A current focus in psychiatric genetics is detection of multiple common risk alleles through very large GWAS analyses. Yet families do exist, albeit rare, that have multiple affected members who are presumed to have a similar inherited cause to their illnesses. We hypothesized that within some of these families there may be rare highly penetrant mutations that segregate with illness. In this exploratory study, the genomes of ninety individuals across nine families were sequenced. Each family included a minimum of three available relatives affected with a psychotic illness and three available unaffected relatives. Twenty-six variants were identified that are private to a family, alter protein sequence, and are transmitted to all affected individuals within the family. In one family, seven siblings with schizophrenia spectrum disorders each carry a novel private missense variant within the SHANK2 gene. This variant lies within the consensus SH3 protein-binding motif by which SHANK2 may interact with post-synaptic glutamate receptors. In another family, four affected siblings and their unaffected mother each carry a novel private missense variant in the SMARCA1 gene on the X chromosome. Both variants represent candidates that may be causal for psychotic disorders when considered in the context of their transmission pattern and known gene and disease biology.