Subject: ADRC: 375A
Dear Ron,
I am writing in connection with your abstract for the upcoming Washington
DC ADRC:
'Identification of a Drosophila homolog of NPC1- a protein related to Patched.'
You describe 'NPC1', a gene that is new to FlyBase. Do you have a full
name for this gene, or a cytological location for NPC1? It is nice if we
can keep as many gene records as possible anchored to the map.
Thank you for your help,
with best wishes,
Rachel.
Subject: Re: ADRC: 375A
Dear Rachel,
Thanks for your message. NPC1 stands for Niemann-Pick Type C1 disease
which is a human disorder that involves progressive neurodegeneration and
hepatosplenomegaly. It is caused by a cellular defect in cholesterol
homeostasis. In our unpublished work, we have identified a fly EST which is
related to the human and mouse NPC1 sequences. The EST appears to be full
length for NPC1 and is chimeric (containing seq for ribosomal RNA and other
sequences). The NPC1 sequence maps to 31B1-5 by in situ. The entire EST
maps to the same place- even though its chimeric, 80% of the sequence codes
for NPC1. Right now we are calling it NPC1 but that name my change
depending on the mutant phenotype which we are still pursuing
Sincerely,
Ron Johnson, Ph.D.
Laboratory of Matthew P. Scott
Department of Developmental Biology
B371, Beckman Center
279 Campus Drive
Stanford University Medical Center
Stanford, CA 94305-5329