Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney.
Defects in the newly reported gene NPHS1 in chromosome 19 cause the massive proteinuria of Finnish type congenital nephrotic syndrome (CNF). Together with its gene product, nephrin, NPHS1 is providing new understanding of the pathophysiological mechanisms of glomerular filtration. Here we show the characteristic splicing of NPHS1 mRNA in the normal and CNF kidneys and localize nephrin exclusively in the glomerulus and to the filtration slit area by light and immunoelectron microscopy. These results indicate that nephrin is a new protein of the interpodocyte filtration slit area with a profound role in the pathophysiology of the filtration barrier.
Holthöfer
H
H
Division of Bacteriology, Haartman Institute, University of Helsinki, Helsinki, Finland. harry.holthofer@helsinki.fi
Ahola
H
H
Solin
M L
ML
Wang
S
S
Palmen
T
T
Luimula
P
P
Miettinen
A
A
Kerjaschki
D
D
D000595:Amino Acid Sequence; D001483:Base Sequence; D006801:Humans; D007150:Immunohistochemistry; D007678:Kidney Glomerulus / Q000378:metabolism* / Q000473:pathology / Q000648:ultrastructure; D008565:Membrane Proteins; D016253:Microscopy, Immunoelectron; D008969:Molecular Sequence Data; D009404:Nephrotic Syndrome / Q000378:metabolism* / Q000473:pathology; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D011506:Proteins / Q000235:genetics / Q000378:metabolism*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics
D008565:Membrane Proteins; D020033:Protein Isoforms; D011506:Proteins; D012333:RNA, Messenger; C113267:nephrin