title: Loss of chromosome 16 from renal epithelial cells in humans.
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 (P<0.001). We also observed in epithelial cells of renal cysts a preponderance of monosomy for chromosome 16 over monosomy for chromosome 1 (P<0.024). Low-frequency loss of heterozygosity that results from acquired monosomy of chromosome 16 and perhaps other chromosomes may contribute to expression of complex genetic traits such as essential hypertension, in which the diverse phenotypic manifestations are poorly understood.
authors.affiliation: Hypertension Research Center, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, NJ 07103-2714, USA.
authors.forename: Jeffrey P
authors.initials: JP
authors.lastname: Gardner
authors.forename: Xiao-Yan
authors.initials: XY
authors.lastname: Yang
authors.forename: Joan
authors.initials: J
authors.lastname: Skurnick
authors.forename: Patricia D
authors.initials: PD
authors.lastname: Wilson
authors.forename: Hana
authors.initials: H
authors.lastname: Aviv
authors.forename: Smita
authors.initials: S
authors.lastname: Patel
authors.forename: Amy L
authors.initials: AL
authors.lastname: Davidow
authors.forename: Michael
authors.initials: M
authors.lastname: Gutkin
authors.forename: Abraham
authors.initials: A
authors.lastname: Aviv
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000782:Aneuploidy; D044383:Black People / Q000235:genetics; D001794:Blood Pressure; D015992:Body Mass Index; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004847:Epithelial Cells / Q000166:cytology* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007668:Kidney / Q000166:cytology* / Q000473:pathology; D052177:Kidney Diseases, Cystic / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009006:Monosomy / Q000175:diagnosis / Q000473:pathology; D014551:Urinary Tract / Q000166:cytology; D014556:Urine / Q000166:cytology*; D044465:White People / Q000235:genetics