Regulatory Elements, Transcriptional

Publication Title: 
The Journal of Clinical Endocrinology and Metabolism

CONTEXT: Exceptional longevity is associated with raised serum TSH. OBJECTIVE: The aim of this study was to examine whether offspring of people with exceptional longevity have elevated serum TSH and whether specific single nucleotide polymorphisms (SNPs) in the TSH-B gene and TSH receptor (TSHR) gene are associated with this phenotype. DESIGN/SETTING/PATIENTS: We measured serum TSH and free T(4) in Ashkenazi Jewish centenarians (n = 232; median age, 97 yr), their offspring (n = 366; median age, 69 yr), and age-matched controls without familial longevity (n = 163; median age, 70 yr).

Atzmon, Gil
Barzilai, Nir
Surks, Martin I.
Gabriely, Ilan
Publication Title: 
PloS One

Genetic mutations of FUS have been linked to many diseases including Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration. A primate specific and polymorphic retrotransposon of the SINE-VNTR-Alu (SVA) family is present upstream of the FUS gene. Here we have demonstrated that this retrotransposon can act as a classical transcriptional regulatory domain in the context of a reporter gene construct both in vitro in the human SK-N-AS neuroblastoma cell line and in vivo in a chick embryo model.

Savage, Abigail L.
Wilm, Thomas P.
Khursheed, Kejhal
Shatunov, Aleksey
Morrison, Karen E.
Shaw, Pamela J.
Shaw, Christopher E.
Smith, Bradley
Breen, Gerome
Al-Chalabi, Ammar
Moss, Diana
Bubb, Vivien J.
Quinn, John P.
Publication Title: 
Trends in genetics: TIG

Transcriptional mechanisms mediated by the binding of transcription factors (TFs) to cis-acting regulatory elements (CREs) in DNA play crucial roles in directing gene expression. While TFs have been extensively studied, less effort has gone towards the identification and functional characterization of CREs and associated epigenetic modulation. However, owing to methodological and analytical advances, more comprehensive studies of regulatory elements and mechanisms are now possible.

Shibata, Mikihito
Gulden, Forrest O.
Sestan, Nenad
Publication Title: 

Single-stranded DNA (ssDNA) recombineering is a technology which is used to make subtle changes in the chromosome of several bacterial genera. Cells which express a single-stranded DNA binding protein (RecT or Bet) are transformed with an oligonucleotide which is incorporated via an annealing and replication-dependent mechanism. By in silico analysis we identified ssDNA binding protein homologs in the genus Lactobacillus and Lactococcus lactis.

Van Pijkeren, Jan-Peter
Neoh, Kar Mun
Sirias, Denise
Findley, Anthony S.
Britton, Robert A.
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