Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene
Y Nagasawa, S Matthiesen, LF Onuchic… - Journal of the …, 2002 - journals.lww.com
PKHD1, the gene mutated in human autosomal recessive polycystic kidney disease has
recently been identified. Its translation products are predicted to belong to a superfamily of
proteins involved in the regulation of cellular adhesion and repulsion. One notable aspect of
the gene is its unusually complex pattern of splicing. This study shows that mouse Pkhd1
and its translation products have very similar properties to its human orthologue. Mouse
Pkhd1 extends over approximately 500 kb of genomic DNA, includes a minimum of 68 …
recently been identified. Its translation products are predicted to belong to a superfamily of
proteins involved in the regulation of cellular adhesion and repulsion. One notable aspect of
the gene is its unusually complex pattern of splicing. This study shows that mouse Pkhd1
and its translation products have very similar properties to its human orthologue. Mouse
Pkhd1 extends over approximately 500 kb of genomic DNA, includes a minimum of 68 …