The N-acetyltransferase-2 gene (NAT-2) has been associated with Parkinson’s disease. The genotype associated with slow acetylation has been reported to be increased in patients with Parkinson’s disease. Three mutant alleles M1, M2, and M3 of NAT-2 were investigated in 80 patients with idiopathic Parkinson’s disease and 161 age matched randomly selected controls from a prospective population bas...

Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK: A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 13:399, 1996 3. Jazwinska EC, Cullen LM, Busfield F, Puper WR, Webbe SI, Powell LW, Morris CP, Walsh TP: Hemochromatosis and HLA-H. Nat Genet 14:249, 1996 4. Jouanolle AM, Gandon G, Jezequel P, Blayau M, Campion ML, Yaouanq J, Mosser J, Fergelot P, ...

Acute primary cytomegalovirus (CMV) infections, which commonly occur asymptomatically among blood donors, represent a significant risk for serious morbidity in immunocompromised patients (a major group of transfusion recipients). We implemented a routine CMV pool screening procedure for plasma for the identification of CMV DNA-positive donors, and we evaluated the sensitivities and performance ...

Transcription factor cAMP-responsive element modulator (CREM) plays a key physiological and developmental role within the hypothalamic-pituitary-gonadal axis. The use of an alternative, intronic promoter within the CREM gene is responsible for the production of a cAMP-inducible repressor, inducible cAMP early repressor (ICER). ICER negatively autoregulates the ICER promoter, thus generating a f...

Small RNAs (sRNAs) are ~20 to 24 nucleotide single-stranded RNAs that play crucial roles in regulation of gene expression. In plants, sRNAs are classified into microRNAs (miRNAs), repeat-associated siRNAs (ra-siRNAs), phased siRNAs (pha-siRNAs), cis and trans natural antisense transcript siRNAs (cis- and trans-nat siRNAs). Pima (Gossypium barbadense L.) is one of the most economically important...

Natural antisense transcripts (NATs) are RNA molecules that originate from opposite DNA strands of the same genomic locus (cis-NAT) or unlinked genomic loci (trans-NAT). NATs may play various regulatory functions at the transcriptional level via transcriptional interference. NATs may also regulate gene expression levels post-transcriptionally via induction of epigenetic changes or double-strand...

1. Paw BH, Davidson AJ, Zhou Y, et al. Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency. Nat Genet. 2003;34: 59-64. 2. Gasparini P, Miraglia del Giudice E, Delaunay J, et al. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. Am J Hum Genet. 1997;61:1112-1116. 3. Southgate CD, Chishti AH, Mit...

This is the first description of the polymorphisms of arylalkylamine-N-acetyltransferase (AA-NAT) gene in Indian goats with different reproductive traits (twinning percentage and age of sexual maturity). Based on the important role of AA-NAT in reproduction, it is considered as a possible candidate gene for this trait. Two novel synonymous SNPs, C825T (exon2) and C1249T (exon3) were identified....

The Authors Miriam Friedman Ben David is Professor of Medical Education, formerly Co-Director of the Clinical Skills Certification Programme at the Educational Commission for Foreign Medical Graduates (ECFMG) and Associate Dean at the Medical College of Pennsylvania, Philadelphia. Professor Friedman Ben David is currently at the Centre for Medical Education, Dundee, Scotland. Her main areas of ...