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.
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 (mh2J), jittery (ji) and hesitant (ji(hes)), which map to this area, excluded mutations in their Palm coding sequences.
Burwinkel
B
B
Institut für Physiologische Chemie, Ruhr-Universität Bochum, Germany.
Miglierini
G
G
Jenne
D E
DE
Gilbert
D J
DJ
Copeland
N G
NG
Jenkins
N A
NA
Ring
H Z
HZ
Francke
U
U
Kilimann
M W
MW
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005091:Exons; D005819:Genetic Markers; D006801:Humans; D007438:Introns; D007668:Kidney / Q000378:metabolism; D008565:Membrane Proteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D051379:Mice / Q000235:genetics*; D008818:Mice, Neurologic Mutants / Q000235:genetics*; D008969:Molecular Sequence Data; D009928:Organ Specificity; D010750:Phosphoproteins
D005819:Genetic Markers; D008565:Membrane Proteins; C113392:PALM protein, human; C512641:Palm protein, mouse; D010750:Phosphoproteins