✦ LIBER ✦

In vivo footprinting analysis of the FMR1 gene: Proposals concerning gene regulation in high-functioning males

✍ Scribed by Schwemmle, Sabine

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 6 KB
Volume: 84
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990528)84:3<266::aid-ajmg19>3.0.co;2-g

No coin nor oath required. For personal study only.

✦ Synopsis

Dysfunctional regulation and impaired expression of the FMR1 gene are responsible for the fragile X syndrome. We studied the transcriptional regulation of the normal gene and its aberrant regulation by mutation and methylation by analysis of in vivo protein/DNA contact at the promoter region [Schwemmle et al., 1997] (S. Schwemmle et al., submitted for publication). Analysis of protein/DNA interaction was performed using dimethyl sulphate (DMS) footprinting by ligationmediated polymerase chain reaction [Mueller and Wold, 1989;Pfeifer et al., 1989]. Four upstream promoter elements were characterized (designated site I, II, III, and IV; Fig. 1).

In summary our experimental footprinting data show

📜 SIMILAR VOLUMES

Reduced mRNA for G3BP in fragile X cells

Reduced mRNA for G3BP in fragile X cells: Evidence of FMR1 gene regulation

✍ Zhong, Nan; Ju, Weina; Nelson, David; Dobkin, Carl; Brown, W. Ted 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 1 views

Although fragile X syndrome is caused by the absence of fragile X gene expression, little is known about the pathogenic processes underlying the mental retardation. Recent findings that the fragile X protein, FMRP, contains RNA binding motifs and nuclear transport signals and associates with ribosom

Analysis of GNAZ gene polymorphism in bi

Analysis of GNAZ gene polymorphism in bipolar affective disorder

✍ Saito, Takuya; Papolos, Demitri F.; Chernak, Danielle; Rapaport, Mark H.; Kelsoe 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

Evidence for a bipolar disorder (BPD) susceptibility locus on chromosome 22q11 has been provided in several studies. One candidate gene that maps to this region is the G-protein ␣ subunit gene G␣z (GNAZ). We have identified a common silent polymorphism in GNAZ exon 2 by single strand conformation po

Analysis of 14 CAG repeat-containing gen

Analysis of 14 CAG repeat-containing genes in schizophrenia

✍ Joober, Ridha; Benkelfat, Chawki; Toulouse, Andr�; Lafreni�re, Ronald G.A.; Lal, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 1 views

Recently, it has been suggested that trinucleotide repeat-containing genes may be involved in the etiology of schizophrenia. This study was aimed at investigating putative associations between allelic variants or expansions of CAG repeat-containing genes (CAGrCG) and schizophrenia or its variability

Genetic homogeneity, high-resolution map

Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene

✍ Wang, Cong-Yi; Huang, Yi-Qun; Shi, Jing-Da; Marron, Michele P.; Ruan, Qing-Guo; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 2 views

The urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disorder characterized by abnormal facial expression and urinary abnormalities. Previously, we mapped the gene to a genomic interval of approximately 1 cM on chromosome region 10q23-24, using families from Columbia. Here we demonstr

La gente per bene

✍ Colombi, Marchesa 📂 Fiction 🌐 Italian ⚖ 108 KB 👁 2 views

La Marchesa Colombi si presenta come una vecchia signora che elargisce consigli sulle buone maniere da adottare in ogni circostanza, in famiglia e in società, nei diversi momenti della vita di una persona, da quando nasce a quando diventa vecchia. La gente per bene fu pubblicato la prima volta nel 1

La gente per bene

✍ Colombi, Marchesa 📂 Fiction 📅 2012 🌐 Italian ⚖ 102 KB 👁 2 views