TY - JOUR
T1 - PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
AU - Onuchic, Luiz F.
AU - Furu, Laszlo
AU - Nagasawa, Yasuyuki
AU - Hou, Xiaoying
AU - Eggermann, Thomas
AU - Ren, Zhiyong
AU - Bergmann, Carsten
AU - Senderek, Jan
AU - Esquivel, Ernie
AU - Zeltner, Raoul
AU - Rudnik-Schöneborn, Sabine
AU - Mrug, Michael
AU - Sweeney, William
AU - Avner, Ellis D.
AU - Zerres, Klaus
AU - Guay-Woodford, Lisa M.
AU - Somlo, Stefan
AU - Germino, Gregory G.
PY - 2002
Y1 - 2002
N2 - Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and that is characterized by enlarged kidneys and congenital hepatic fibrosis. We have identified PKHD1, the gene mutated in ARPKD. PKHD1 extends over ≥469 kb, is primarily expressed in human fetal and adult kidney, and includes a minimum of 86 exons that are variably assembled into a number of alternatively spliced transcripts. The longest continuous open reading frame encodes a 4,074-amino-acid protein, polyductin, that is predicted to have a single transmembrane (TM)-spanning domain near its carboxyl terminus, immunoglobulin-like plexin-transcription-factor domains, and parallel beta-helix 1 repeats in its amino terminus. Several transcripts encode truncated products that lack the TM and that may be secreted if translated. The PKHD1-gene products are members of a novel class of proteins that share structural features with hepatocyte growth-factor receptor and plexins and that belong to a superfamily of proteins involved in regulation of cell proliferation and of cellular adhesion and repulsion.
AB - Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and that is characterized by enlarged kidneys and congenital hepatic fibrosis. We have identified PKHD1, the gene mutated in ARPKD. PKHD1 extends over ≥469 kb, is primarily expressed in human fetal and adult kidney, and includes a minimum of 86 exons that are variably assembled into a number of alternatively spliced transcripts. The longest continuous open reading frame encodes a 4,074-amino-acid protein, polyductin, that is predicted to have a single transmembrane (TM)-spanning domain near its carboxyl terminus, immunoglobulin-like plexin-transcription-factor domains, and parallel beta-helix 1 repeats in its amino terminus. Several transcripts encode truncated products that lack the TM and that may be secreted if translated. The PKHD1-gene products are members of a novel class of proteins that share structural features with hepatocyte growth-factor receptor and plexins and that belong to a superfamily of proteins involved in regulation of cell proliferation and of cellular adhesion and repulsion.
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U2 - 10.1086/340448
DO - 10.1086/340448
M3 - Article
C2 - 11898128
AN - SCOPUS:18344366124
SN - 0002-9297
VL - 70
SP - 1305
EP - 1317
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 5
ER -