chronic granulomatous disease (cgd), a rare inherited primary immunodeficiency disorder,  is  caused  by  mutation  in  any  one  of  the  genes  encoding  components   of nicotinamide adenine dinucleotide phosphate (nadph)-oxidase enzyme. ncf2 gene (encoding p67-phox component) is one of them and its mutation is less common to cause cgd (around 5-6%). here, we assessed mutation analysis of ncf...

Mutations in the human ortholog of Drosophila patched (PTCH) have been identified in patients with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS), characterized by minor developmental anomalies and an increased incidence of cancers such as medulloblastoma and basal cell carcinoma. We identified many isoforms of PTCH mRNA involving exons 1-5, exon 10 and a novel exon, 12b, gener...

To understand the regulation of CC chemokine receptor 3 (CCR3) expression, its gene structure and promoter have been characterized. The CCR3 gene contains 4 exons that give rise to multiple messenger RNA (mRNA) species by alternative splicing. Exon 1 is present in all transcripts, whereas exon 2 or 3 is present at low frequency (< 10%). Exon 4 contains the open reading frame and 11 bp of the 5'...

Duchenne muscular dystrophy is a severe muscle-wasting disease caused by mutations in the dystrophin gene that ablate functional protein expression. Although exonic deletions are the most common Duchenne muscular dystrophy lesion, duplications account for 10-15% of reported disease-causing mutations, and exon 2 is the most commonly duplicated exon. Here, we describe the in vitro evaluation of p...

BACKGROUND Non-small cell lung cancers (NSCLCs) harboring specific genetic alterations can be highly sensitive to targeted therapies. MATERIALS AND METHODS We performed a targeted rearrangement assay on 54 NSCLCs across all stages that were from patients who were never smokers and did not have driver mutations. Because MET exon 14 skipping was the most frequent alteration found, we surveyed t...

Myeloperoxidase (MPO), present in the azurophilic granules of polymorphonuclear leukocytes, is a myeloid enzyme whose synthesis is restricted to promyelocytes. Complete hereditary MPO deficiency affects 1 in 2,000 to 4,000 individuals; however, the genetic cause of this defect is unclear. We have determined the molecular basis of MPO deficiency in one individual (SQ). Granulocytes of SQ had no ...

Using 5' RACE, we have isolated four additional exons of the mu opioid receptor gene (Oprm), resulting in a gene spanning over 250 kb. The four new exons are contained within eight additional splice variants containing exon 11 at the 5' terminus. Exon 11, which is under the control of a previously unknown upstream promoter, and exon 12 are located approximately 10 kb and approximately 8 kb upst...

Abnormal metabolism of the tau protein is central to the pathogenesis of a number of dementias, including Alzheimer's disease. Aberrant alternative splicing of exon 10 in the tau pre-mRNA resulting in an imbalance of tau isoforms is one of the molecular causes of the inherited tauopathy, FTDP-17. We showed previously in heterologous systems that exon 10 inclusion in tau mRNA could be modulated ...

BACKGROUND Non-coding single nucleotide polymorphisms (SNPs) in GABRB2, the gene for beta(2)-subunit of gamma-aminobutyric acid type A (GABA(A)) receptor, have been associated with schizophrenia (SCZ) and quantitatively correlated to mRNA expression and alternative splicing. METHODS AND FINDINGS Expression of the Exon 10 region of GABRB2 from minigene constructs revealed this region to be an ...