TY - JOUR
T1 - Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and Mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice
AU - Burwinkel, Barbara
AU - Miglierini, Giuliana
AU - Jenne, Dieter E.
AU - Gilbert, Debra J.
AU - Copeland, Neal G.
AU - Jenkins, Nancy A.
AU - Ring, Huijun Z.
AU - Francke, Uta
AU - Kilimann, Manfred W.
N1 - Funding Information:
We thank Margit Burmeister (Ann Arbor, MI) for mutant mouse RNAs, Michael Zimmer (Martinsried) for restriction site mapping and helpful discussions, Anne Olsen (Livermore) for chromosome 19 cosmids, and Deborah B. Householder (Frederick) for excellent technical assistance. This work was supported by grants from the Deutsche Forschungsgemeinschaft, the European Union (Human Capital and Mobility Programme), the Fonds der Chemischen Indus-trie and the Medizinische FakultaÈt der Ruhr-UniversitaÈt Bochum (KOFFER and FoRUM ®nancial programmes) to M.W.K.; the Deutsche Forschungsgemeinschaft (SFB 469, Teilprojekt A5) to D.E.J.; the National Cancer Institute, DHHS, under contract with ABL, to N.A.J.; and the Howard Hughes Medical Institute, the NHGRI, and the NINDS to U.F.
PY - 1998/5/1
Y1 - 1998/5/1
N2 - Paralemmin is a newly identified protein that is associated with the plasma membrane and with intracellular membranes through a lipid anchor. It is abundant in brain, is expressed at intermediate levels in the kidney and in endocrine cells, and occurs at low levels in many other tissues. As it is a candidate for genetic disorders that affect membrane functions, we have determined the structure of the human paralemmin gene, PALM, showing that it is organized into nine exons. Moreover, we have performed chromosomal assignments of the human and mouse paralemmin genes, localizing them to regions of homology at human 19p13.3 and the central mouse chromosome 10. Finally, mutation analysis using RNA from mice homozygous for the mutant genes grizzled (gr), mocha (mh), mocha 2J (mh(2J)), jittery (ji) and hesitant (ji(hes)), which map to this area, excluded mutations in their Palm coding sequences.
AB - Paralemmin is a newly identified protein that is associated with the plasma membrane and with intracellular membranes through a lipid anchor. It is abundant in brain, is expressed at intermediate levels in the kidney and in endocrine cells, and occurs at low levels in many other tissues. As it is a candidate for genetic disorders that affect membrane functions, we have determined the structure of the human paralemmin gene, PALM, showing that it is organized into nine exons. Moreover, we have performed chromosomal assignments of the human and mouse paralemmin genes, localizing them to regions of homology at human 19p13.3 and the central mouse chromosome 10. Finally, mutation analysis using RNA from mice homozygous for the mutant genes grizzled (gr), mocha (mh), mocha 2J (mh(2J)), jittery (ji) and hesitant (ji(hes)), which map to this area, excluded mutations in their Palm coding sequences.
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U2 - 10.1006/geno.1998.5276
DO - 10.1006/geno.1998.5276
M3 - Article
C2 - 9615234
AN - SCOPUS:0031807712
SN - 0888-7543
VL - 49
SP - 462
EP - 466
JO - Genomics
JF - Genomics
IS - 3
ER -