عنوان
پدید آورنده
موضوع
رده
کتابخانه
محل استقرار
IR
۵۲۶پ
فارسی
IR
بررسی ناحیه پروموتر ژن ATF 6( Activating Transcription Factor 6) در ۲۰۰ بیمار مبتلا به سایکوز با معیارهای تشخیصی DSM-IV-IR از شهر تهران
[پایان‌نامه]
Anaysis of the promoter sequene of the ATF6 gene (activating transcription factor 6) in 200 patients afflicted with DSM-IV-TR diagnosed psychosis from
دانشگاه علوم بهزیستی وتوانبخشی university of social welfare and rehabilitation))
، ۱۳۹۱
ی،۹۰ص.
چاپی
کارشناسی ارشد
ژنتیک genetic
دانشگاه علوم بهزیستی وتوانبخشی university of social welfare and rehabilitation))
The majority of single nucleotide polymorphism association studies in psychiatric disorders suffer from lack of reproducibility, necessitating re-sequencing genes for the identification of novel rare variants and deleterious mutations. We have recently reported functional mutations in the proximal promoter sequence of the calreticulin (CALR) gene in the spectrum of psychosis, that were absent from the control pool. The gene, activating transcription factor 6 (ATF6), is a key transcription factor that activates the expression of CALR along with several other endoplasmic reticulum stress chaperones. In a case/control study design, we screened the 500-bp proximal promoter region of ATF6 in a spectrum of patients affected by major psychiatric disorders including schizophrenia, schizoaffective affective disorders (n=400), and controls (n=890), and found that a novel mutation at position -353 A>G co-occurs with the disorders along the spectrum. This mutation was not detected in the control population (Mid-P exact <0.01). The-353G allele increased gene expression in the human neuroblastoma cell line,LAN-5 (p<0.0002). To our knowledge, this is the first instance of a mutation in the human ATF6 gene that is linked with disease. Our findings of functional diseaselinked mutations in the promoters of two genes CALR and ATF6 strengthen the hypothesis that major psychiatric disorders are, at least in part, a collection of deleterious mutations in the gene regulatory regions that are absent from the control population pool.KEY WORDS: CALR; ATF6; psychosis; mutation; promoter; expression
ba
Anaysis of the promoter sequene of the ATF6 gene (activating transcription factor 6) in 200 patients afflicted with DSM-IV-TR diagnosed psychosis from
CALR
CALR
CALR
کاظمی نسب، سمیه
Kazemi Nasab, Somayeh
اوحدی نسب، مینا
میراب زاده، آرش
ایران
دانشگاه علوم توان بخشی و سلامت اجتماعی
۵۲۶پ
526t.pdf
محرمانه
محرمانه
526t.pdf
1991012
مرجع
متن
0
۶۲۵پ
محل نگهداری: دانشگاه علوم بهزیستی و توانبخشی
نمایه‌سازی قبلی
چاپی-الکترونیکی
TF
1
a
Y
