Loss of Chromosome 16 From Renal Epithelial Cells in Humans

Abstract

Abstract-This work explores the notion that low-frequency, acquired aneuploidy may play a role in complex genetic traits such as essential hypertension. To this end, renal epithelial cells in urinary sediments and in renal cysts were examined by fluorescent in situ hybridization with DNA probes specific for the heterochromatic and centromere regions of chromosomes 16 and 1. Chromosome 16 was probed because it harbors variant genes causing monogenic hypertension. These genes have also been investigated for their role in essential hypertension. Chromosome 1 was also probed as an internal control. Higher proportions of renal epithelial cells in the urinary sediments showed monosomy of chromosome 16 than monosomy of chromosome 1 (PϽ0.001). We also observed in epithelial cells of renal cysts a preponderance of monosomy for chromosome 16 over monosomy for chromosome 1 (PϽ0.024).

Chromosomal findings and sequence analysis of target exons of calcium-sensingreceptor (CaSR) gene in patients with Sagliker syndrome

“…It has been demonstrated that multiple genetic abnormalities, which included consistent losses of chromosomes 1, 4, 6, 8, 9, 13, 14, 15, and 22, are frequently encountered in cases of papillary renal cell carcinoma and papillary adenoma (27). It was indicated that the rate of loss of chromosome 16 from renal epithelial cells far exceeded that of chromosome 1 for mentioned cases (28). It is also known that the resulting gene dosage imbalance of aneuploidies has a noticeable effect on the phenotype.…”