LUANNE PETERS

..85 versus 7.13. Thus, as shown in human erythrocytes, positively charged Hbs are associated with cell dehydration and increased CHCM in mouse erythrocytes...

..These analyses emphasize the genetic complexity underlying the regulation of erythroid peripheral blood traits in normal populations and suggest that genes not previously recognized as significantly impacting normal erythropoiesis exist...

..This review summarizes those resources and provides practical guidelines for their use, particularly in the analysis of quantitative traits...

..The data reinforce the notion that a membrane bridge in addition to the classic protein 4.1-p55-glycophorin C linkage exists at the RBC junctional complex that involves interactions between spectrin, adducin, and band 3...

..Defects in all the 5 known components of BLOC-1, including RP, cause severe HPS in mice, suggesting that the subunits are nonredundant and that BLOC-1 plays a key role in organelle biogenesis...

..These data indicate that adducin plays a role in RBC membrane stability and in cerebrospinal fluid homeostasis...

..The data implicate mammalian TRAPPC6A in vesicle trafficking during melanosome biogenesis...

..Further investigation of genomic differences between the ENU mutant and KO strains may reveal previously unappreciated sequence functionality...

..Sex has no net effect on areal BMD, but after accounting for body mass difference females have higher areal BMD. Leptin is affected by relative fat mass and has no net effect on areal BMD. IGF-I has a direct effect on areal BMD...

..Data generated by this effort builds on the value of inbred mouse strains as a powerful tool for biomedical research...

..These analyses underscore the genetic complexity underlying these traits in normal populations and provide the basis for future studies to identify novel genes involved in the regulation of mammalian hematopoiesis...

..The peak LOD score was obtained with a marker for Spnb1 encoding erythroid beta-spectrin, an obvious candidate gene...

..The Ush1c mutant mice described here provide a means to directly investigate these interactions in vivo and to evaluate gene structure-function relationships that affect inner ear and eye phenotypes...

..Here, we review our cardiovascular screens and present some hypertensive, obese, and cardiovascular models identified with this approach...

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..These data, freely available on the World Wide Web, allow investigators to knowledgeably select the most appropriate strain(s) to meet their individual study designs and goals...

..These results suggest that the structural properties of adducin differ significantly between erythroid and various nonerythroid cell types...

..53, P < 0.01). These results support the hypothesis that the IGF1 pathway plays a key role in regulating longevity in mice and indicates that common genetic mechanisms may exist for regulating IGF1 levels and lifespan...

..05) and were consistent with dehydration. These data indicate that relatively short exposure to the spaceflight environment can induce profound changes that may become significant during long-term space missions...

..Thus, loss of one or more distinct, DIDS-sensitive anion channel polypeptide(s) from the Ae1(-/-) red cell membrane cannot be ruled out as an explanation for the reduced DIDS-sensitive anion conductance...

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..These data suggest that oxygenation-dependent assembly of GEs on the membrane could be a general phenomenon of mammalian erythrocytes and that stability of these interactions depends primarily on band 3...

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..The availability of an Emp null model provides a unique experimental system to study the enucleation process and to evaluate the function of macrophages in definitive erythropoiesis...

..2(-) and Rh(null) red cells...

..1R-binding domains. Our report establishes an evolutionarily conserved role for band 3 in erythroid-specific cell division and illustrates the concept of cell-specific adaptation for mitosis...

..The purpose of this article is to highlight the new projects in North America that are focused on isolating mouse mutations after ENU mutagenesis and phenotype screening...

..In contrast, the hypopigmentation seen in the gunmetal strain is due to the retention of melanosomes in melanocytes, and inefficient transfer into keratinocytes...

..We conclude that Nmt1 is not essential for the viability of mammalian cells but is required for development, likely because it is the principal N-myristoyltransferase in early embryogenesis...

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..1 plays a major role in volume regulation and physiologically downregulates Na/H exchange in mouse erythrocytes. Upregulation of the Na/H exchange is an important contributor to the elevated cell Na content of 4.1(-/-) erythrocytes...

..We postulate that secretion of this newly described isoform, ICAM-4S, may modulate binding of membrane-associated ICAM-4 and could thus play a critical regulatory role in erythroblast molecular attachments...

..We speculate that this macrocomplex may function as an integrated CO(2)/O(2) gas exchange unit (metabolon) in the erythrocyte...

..Many of the results are similar to those using other models. Clearly, spaceflight can influence immune parameters ranging from hematopoiesis to mature leukocyte mechanisms...

..We anticipate that these findings will contribute to further development of our understanding of the contribution of RPS19 to erythropoiesis...

..We demonstrate that beta(S) expression was not detected in the blood of bigenics, but the gene was present in nonerythroid cells. Thus, excision of the loxP-flanked beta(S) gene was restricted to erythroid cell lineages...

..The current results indicate that beta-adducin may play an important role in the cellular mechanisms underlying activity-dependent synaptic plasticity associated with learning and memory...

..Our data show that mfrn functions as the principal mitochondrial iron importer essential for haem biosynthesis in vertebrate erythroblasts...

..0 and -3.0 min per 2-h interval, respectively). This method has applications in chemical mutagenesis and for studies of molecular changes in brain with sleep/wakefulness...

..In conclusion, HNF4alpha has a critical role in blood coagulation homeostasis by directing transcription of the FXII and XIIIB genes...

..5 isoform in the structure and assembly of the sarcoplasmic reticulum by an in vivo developmental study. ..

..Follow up studies will include electrocardiology and echocardiology. ..

..Identifying the primary genetic determinants of baseline peripheral blood traits will enhance our understanding of blood formation and provide novel diagnostic and therapeutic targets for hematological and cardiovascular pathologies. ..

..New mouse models will be cryo-preserved in order to maintain their availability. Provision are likewise to maintain all JAX PGA resources beyond the PGA program. ..

..Lung fibrosis typically leads to death in the 4th to 5th decades. This study is designed to identify the underlying genetic causes of HPS, which will provide avenues of research for potential therapies. ..

..Short courses such as these are critical to develop the cadre of highly skilled young clinical investigators and researchers that know how to use the latest tools in solving the genetic underpinnings of these disease. (End of Abstract) ..

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..Identifying the primary genetic determinants of baseline peripheral blood traits will enhance our understanding of blood formation and provide novel diagnostic and therapeutic targets for hematological and cardiovascular pathologies. ..

..2 in organelles. Ultimately, this research will identify the genetic defects that cause SPD in humans, a prerequisite to the development of effective gene therapy interventions for their treatment and eventual cure. ..

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..Lung fibrosis typically leads to death in the 4th to 5th decades. This study is designed to identify the underlying genetic causes of HPS, which will provide avenues of research for potential therapies. ..