N-Deacetylase/N-Sulfotransferase 1 (NDST1)

Dixon et al. (1995) cloned a human heparan sulfate N-deacetylase/N-sulfotransferase cDNA from a placenta library using a cosmid from the Treacher Collins syndrome candidate region on chromosome 5q32-q33.1. They detected 2 different mRNAs that vary in the length of their 3-prime untranslated regions but encode the same protein. Ndst1-null mice developed respiratory distress and atelectasis that subsequently caused neonatal death. Morphologic examination revealed type II pneumocyte immaturity, which was characterized by an increased glycogen content and a reduced number of lamellar bodies and microvilli. Biochemical analysis indicated that both total phospholipids and desaturated phosphatidylcholine were reduced in the mutant lung.