Localization of a second NM23 gene, NME2, to chromosome 17q21-q22

NM23 is a candidate tumor suppressor protein and has recently been identified as an NDP kinase. The expression of NM23 is inversely related to the metastatic potential of tumor cells. Two NM23 genes, NME1 and NME2, that code for the A and B chains of the kinase, respectively, have been cloned. To determine the human chromosomal location of the NME2 gene, we have analyzed DNA from rodent-human cell lines and hybrid cell lines containing portions of chromosome 17 by a combination of PCR amplification and Southern hybridization. The NME2 gene was mapped to the chromosome region 17q21-q22, the same region in which the NME1 gene has been localized. This region is linked to the early onset breast/ovarian locus (BRCA1) and allelic deletions of NME1 have been associated with metastatic potential of colorectal carcinomas.     

Mapping of the human thromboxane synthase gene (TBXAS1) to chromosome 7q34-q35 by two-color fluorescence in situ hybridization

Thromboxane synthase (TS) catalyzes the conversion of the prostaglandin endoperoxide into thromboxane A2 (TxA2), a potent vasoconstrictor and inducer of platelet aggregation. In concert with prostacyclin TxA2 plays a pivotal role in the maintenance of hemostasis. Deficiency of platelet TS activity has been shown to result in bleeding disorders. The potent effect of TxA2 on platelet function and vascular activity suggests a possible involvement of TS in normal and pathophysiological conditions such as cardiovascular disease. To aid in establishing the correlation of TS to disease states, we localized the human TS gene (TBXAS1) to chromosome 7q34-q35 using dual-color fluorescence in situ hybridization.     

Assignment of the gene encoding the limbic system-associated membrane protein (LAMP) to mouse chromosome 16B5 and human chromosome 3q13.2-q21

Both insulin and muscle contraction stimulate glucose transport activity. However, contraction stimulation does not involve the insulin signalling intermediate phosphatidylinositol 3-kinase (PI 3-kinase). Protein kinase B (PKB) has recently been identified as a direct downstream target of PI 3-kinase in the insulin signalling pathway. We have examined here whether the two stimuli share PKB as a convergent step in separate signalling pathways. Insulin stimulates both glucose transport, GLUT4 cell-surface content and PKB activity (by 4-6-fold above basal) in a wortmannin-sensitive manner in in vitro incubated rat soleus muscles. By contrast, muscle contraction, which stimulates glucose transport and the cell surface content of GLUT4 by 3-fold above basal levels, had no effect on PKB activity. These data demonstrate that PKB is not a mediator of contraction-induced glucose transport and GLUT4 translocation.     

Characterization of a novel gene, PNUTL2, on human chromosome 17q22-q23 and its exclusion as the Meckel syndrome gene

Decreased taste sensitivity may be one of the many factors influencing the poor nutritional status of many patients with chronic renal failure. Several studies examining taste in chronic uremic and hemodialysis (HD) patients indicate decreased sensitivity; continuous ambulatory peritoneal dialysis (CAPD) patients, however, warrant investigation. The aim of this study was to determine if the taste detection threshold for each of the four tastes (sweet, salty, sour and bitter) differs between CAPD patients and age and sex matched controls with normal renal function. The thresholds were determined using Cornsweet's staircase technique for increasing and decreasing stimulus concentration, in which the subject's response determines the next concentration to be tested. A forced-choice design using three samples was used to help minimize bias. The taste detection threshold for the CAPD patients was significantly higher than that of the controls for sodium chloride (salty)(P = 0.001) and quinine (bitter) (P = 0.01). This information may be useful when designing dietary supplements and devising meal plans to help patients consume nutritionally adequate diets.     

Six antimicrobial peptide genes of the cathelicidin family map to bovine chromosome 22q24 by fluorescence in situ hybridization

Seven patients with acute or chronic unilateral hypoglossal nerve lesions were evaluated by magnetic resonance imaging and computed tomography. In patients with acute to subacute tongue paralysis, the base of the ipsilateral side of the tongue appeared expanded and showed increased signal intensity on T2-weighted images. This appearance was suggestive of an infiltrative mass lesion within the tongue. These radiographic findings are due to the pathophysiological process of nerve injury and muscle denervation.     

Assignment of the dynamin-1 gene (DNM1) to human chromosome 9q34 by fluorescence in situ hybridization and somatic cell hybrid analysis

The dynamins are recently discovered GTP-binding proteins postulated to mediate the scission of clathrin-coated vesicles at the plasma membrane. Of the three known mammalian dynamins, dynamin-1 (DNM1) appears to be particularly important for the formation of synaptic vesicles at presynaptic nerve termini. To investigate the possibility that mutations in the DNM1 gene cause a human disease, we determined the chromosomal localization of human DNM1. We conclude from fluorescence in situ hybridization and from the analysis of somatic cell hybrids that the map position in 9q34. This region has syntenic homology with mouse chromosome 2p, in agreement with the map position of the mouse DNM1 gene [see accompanying article by Klocke et al. (1997, Genomics 41:290-292)]. We discuss the potential relevance of the human DNM1 localization to diseases that were mapped genetically to the same chromosomal region.