Journal Article Integration of physical, breakpoint and genetic maps of chromosome 22. Localization of 587 yeast artificial chromosomes with 238 mapped markers Get access Callum J.Bell, Callum J.Bell * *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Marcia L.Budarf, Marcia L.Budarf Search for other works by this author on: Oxford Academic PubMed Google Scholar Bart W.Nieuwenhuijsen, Bart W.Nieuwenhuijsen 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Barry L.Barnoski, Barry L.Barnoski Search for other works by this author on: Oxford Academic PubMed Google Scholar Kenneth H.Buetow, Kenneth H.Buetow 2Fox Chase Cancer Center 7701 Burholme Avenue, Philadelphia, PA 19111–2412 Search for other works by this author on: Oxford Academic PubMed Google Scholar Keely Campbell, Keely Campbell Search for other works by this author on: Oxford Academic PubMed Google Scholar Angela M.E.Colbert, Angela M.E.Colbert 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Joelle Collins, Joelle Collins Search for other works by this author on: Oxford Academic PubMed Google Scholar Mark Daly, Mark Daly 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Philippe R.Desjardins, Philippe R.Desjardins 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar ... Show more Todd DeZwaan, Todd DeZwaan 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Barbara Eckman, Barbara Eckman 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Simon Foote, Simon Foote 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Kyle Hart, Kyle Hart 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Kevin Hiester, Kevin Hiester 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Marius J.Van Het Hoog, Marius J.Van Het Hoog 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Elizabeth Hopper, Elizabeth Hopper Search for other works by this author on: Oxford Academic PubMed Google Scholar Alan Kaufman, Alan Kaufman 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Heather E.McDermid, Heather E.McDermid 4Department of Biological Sciences, University of Alberta Edmonton, Alberta T6G 2E9, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar G.Christian Overton, G.Christian Overton 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Mary Pat Reeve, Mary Pat Reeve 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar David B.Searls, David B.Searls 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Lincoln Stein, Lincoln Stein 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Vinay H.Valmiki, Vinay H.Valmiki 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Edward Watson, Edward Watson Search for other works by this author on: Oxford Academic PubMed Google Scholar Sloan Williams, Sloan Williams Search for other works by this author on: Oxford Academic PubMed Google Scholar Rachel Winston, Rachel Winston 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Robert L. Nussbaum, Robert L. Nussbaum 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Eric S.Lander, Eric S.Lander 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Kenneth H.Fischbeck, Kenneth H.Fischbeck 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Beverly S.Emanuel, Beverly S.Emanuel Search for other works by this author on: Oxford Academic PubMed Google Scholar Thomas J.Hudson Thomas J.Hudson 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 1, January 1995, Pages 59–69, https://doi.org/10.1093/hmg/4.1.59 Published: 01 January 1995 Article history Received: 02 November 1994 Revision received: 02 November 1994 Accepted: 02 November 1994 Published: 01 January 1995
We previously described a patient with a de novo constitutional translocation, t(1;22)(p22;q11.2), who developed a malignant ependymoma at age 5, and we proposed that the translocation predisposed the child to the development of the tumor. As a step toward isolation of a putative cancer gene, we have characterized the breakpoints of the (1;22) translocation at the molecular level. The chromosome 22 breakpoint has been narrowed to a region between ARVCF and D22S264. The chromosome 1 breakpoint has been mapped onto a doubly-linked Whitehead YAC contig by PCR analysis of the STS contents of the patient's derivative chromosomes isolated in somatic cell hybrids. Loss-of-heterozygosity (LOH) studies of the patient's ependymoma and of sporadic ependymomas showed no evidence of consistent loss in the breakpoint regions, suggesting that activation of an oncogene, rather than inactivation of a tumor suppressor gene, is the more likely molecular mechanism involved in this case. The gene for Edg-1, a neurally expressed, seven-segment transmembrane receptor, maps to the region of the chromosome 1 breakpoint but does not appear to be interrupted by the translocation. Molecular characterization of the breakpoint regions reported here represents an important step in the identification of the gene(s) affected by this translocation.
To expand our understanding of the role of Jak2 in cellular signaling, we used the yeast two-hybrid system to identify Jak2-interacting proteins. One of the clones identified represents a human homologue of the Schizosaccaromyces pombe Shk1 kinase-binding protein 1, Skb1, and the protein encoded by theSaccharomyces cerevisiae HSL7 (histone synthetic lethal 7) gene. Since no functional motifs or biochemical activities for this protein or its homologues had been reported, we sought to determine a biochemical function for this human protein. We demonstrate that this protein is a protein methyltransferase. This protein, designated JBP1 (Jak-binding protein 1), and its homologues contain motifs conserved among protein methyltransferases. JBP1 can be cross-linked to radiolabeled S-adenosylmethionine (AdoMet) and methylates histones (H2A and H4) and myelin basic protein. Mutants containing substitutions within a conserved region likely to be involved in AdoMet binding exhibit little or no activity. We mapped the JBP1 gene to chromosome 14q11.2–21. In addition, JBP1 co-immunoprecipitates with several other proteins, which serve as methyl group acceptors and which may represent physiological targets of this methyltransferase. Messenger RNA for JBP1 is widely expressed in human tissues. We have also identified and sequenced a homologue of JBP1 in Drosophila melanogaster. This report provides a clue to the biochemical function for this conserved protein and suggests that protein methyltransferases may have a role in cellular signaling.
Diabetes insipidus (DI) is a disorder characterized by the inability of the body to conserve water. It occurs either via a central mechanism, where anti-diuretic hormone (ADH) is deficient, or via a nephrogenic mechanism characterized by normal ADH secretion and varying degrees of renal resistance to its water-retaining effects. Central DI is mostly idiopathic, but it can be secondary to trauma, surgery, tumors, infections or other infiltrative processes in the brain. Acute myeloid leukemia (AML) is a rare association with central DI, particularly when there are karyotype abnormalities such as monosomy 7 or inversion of chromosome 3q. Here we report a case of DI associated with AML without these chromosomal abnormalities, but with trisomy 13 in a 19-year-old Haitian female. J Hematol. 2014;3(3):80-83 doi: http://dx.doi.org/10.14740/jh125w
The foundation of flow cytometric data analysis is the graphic display and correlation of multiple list mode parameters, identifying locations of cell populations based on their location in n-dimensional space.The reproducibility of these methodologies are critical to their continued use as diagnostic, prognostic or therapeutic indicators.Our approach is based on the definition of reference space using predefined landmark cluster as internal standards.Unknown samples can then be conformed to this standard and a uniform analysis template applied.The results demonstrate that when using this approach, not only are the target populations brought into registration, but the minor populations are adjusted to consistent and predicable locations.This allows the creation of an analysis template that can be standardized across laboratories by accounting for both instrumentation and sample processing variation.The sample is analyzed in the following sequence: cluster finding algorithms are used to locate the landmark clusters in n-dimensional space, conformation equations are then applied to normalize data to the reference and then the analysis template applied to the conformed data.Additional discussion will be directed at the use of internal calibrators or landmark clusters for quantitative flow analysis.In the absence of landmark clusters a stabilized biological particle can be added and used as the internal calibrator.
