Title : ( PTCHD3 is a non-essential gene in humans: Breakpoint mapping and population frequency of a rare deletion variant )
Authors: Mohammad Mahdi Ghahramani Seno , Ben Kwan , Ka Ki Michelle Lee , Rainald Moessner , Sherilyn Bell , Anath C. Lionel , Christian R. Marshall , Stephen W. Scherer ,
Full TextAbstract
In a genomic screen investigating structural variation in Autism Spectrum Disorder (ASD) we detected PTCHD3 as a copy number variable gene in individuals diagnosed with ASD. PTCHD3 expression was detected in several tissues, with high level of expression in lymph node, testes and tongue. A novel shorter isoform for PTCHD3 was also characterized. PTCHD3 isoforms were shown to be expressed in endoplasmic reticulum. The presence of a patched (Ptc) domain suggests a role for PTCHD3 in various biological processes mediated through the Hedgehog (Hh) signaling pathway. However, further investigations demonstrated PTCHD3 variations happening in general population, too. Of note, we found a female individual with no obvious abnormal phenotype harbouring a homozygous deletion of PTCHD3.
Keywords
, PTCHD3, Breakpoint, CNV
@inproceedings{paperid:1038534,
author = {Ghahramani Seno, Mohammad Mahdi and Ben Kwan and Ka Ki Michelle Lee and Rainald Moessner and Sherilyn Bell and Anath C. Lionel and Christian R. Marshall and Stephen W. Scherer},
title = {PTCHD3 is a non-essential gene in humans: Breakpoint mapping and population frequency of a rare deletion variant},
booktitle = {Biology of Genomes},
year = {2010},
location = {USA},
keywords = {PTCHD3; Breakpoint; CNV},
}
%0 Conference Proceedings
%T PTCHD3 is a non-essential gene in humans: Breakpoint mapping and population frequency of a rare deletion variant
%A Ghahramani Seno, Mohammad Mahdi
%A Ben Kwan
%A Ka Ki Michelle Lee
%A Rainald Moessner
%A Sherilyn Bell
%A Anath C. Lionel
%A Christian R. Marshall
%A Stephen W. Scherer
%J Biology of Genomes
%D 2010
