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Gene Review:

Pkhd1 - polycystic kidney and hepatic disease 1

Mus musculus

Synonyms: AI118496, AI182499, FPC, Tigm1, tigmin

Menoud, P.A. et al., Rashid, R.M. et al., Moser, M. et al.

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High impact information on Pkhd1

Due to exon skipping, Pkhd1ex40 mice express a modified Pkhd1 transcript and develop severe malformations of intrahepatic bile ducts [1].
One of cAMP-regulatory sites in the porcine urokinase-type plasminogen activator (uPA) gene resides 3.4 kb upstream of the transcription initiation site and is composed of three protein binding domains, FPA, FPB and FPC [2].
To study the functional cooperation among these three domains we purified and cloned a FPC-binding protein (FPCB) from porcine kidney derived LLC-PK1 cells [2].
The goal of this study was to determine if the immune responses of LLC tumor-bearing (TB) mice differ from control mice and whether the difference could be attributed to either antigen-presenting cells (FPC) or to T cells [3].

References

A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). Moser, M., Matthiesen, S., Kirfel, J., Schorle, H., Bergmann, C., Senderek, J., Rudnik-Schöneborn, S., Zerres, K., Buettner, R. Hepatology (2005) [Pubmed]
Purification and cDNA cloning of a transcription factor which functionally cooperates within a cAMP regulatory unit in the porcine uPA gene. Menoud, P.A., Matthies, R., Hofsteenge, J., Nagamine, Y. Nucleic Acids Res. (1993) [Pubmed]
Decreased T-cell proliferation and skewed immune responses in LLC-bearing mice. Rashid, R.M., Achille, N.J., Lee, J.M., Lathers, D.M., Young, M.R. J. Environ. Pathol. Toxicol. Oncol. (2005) [Pubmed]

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