Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene.
Our group and others had previously developed a high throughput procedure to map translocation breakpoints using chromosome flow sorting in conjunction with microarray-based comparative genomic hybridization (arrayCGH). Here we applied both conventional positional cloning and integrated arrayCGH procedures to the mapping of constitutional chromosome anomalies in four patients with renal cell cancer (RCC), three with a chromosome 3 translocation, and one with an insertion involving chromosome 3. In one of these patients, who was carrying a t(3;4)(p13;p15), the KCNIP4 gene was found to be disrupted. KCNIP4 belongs to a family of potassium channel-interacting proteins and is highly expressed in normal kidney cells. In addition, KCNIP4 splice variants have specifically been encountered in RCC.
Bonne
Anita
A
Department of Human Genetics, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
Vreede
Lilian
L
Kuiper
Roland P
RP
Bodmer
Danielle
D
Jansen
Corine
C
Eleveld
Marc
M
van Erp
Femke
F
Arkesteijn
Ger
G
Hoogerbrugge
Nicoline
N
van Ravenswaaij
Conny
C
Schoenmakers
Eric F P M
EF
Geurts van Kessel
Ad
A
D002292:Carcinoma, Renal Cell / Q000235:genetics*; D045744:Cell Line, Tumor; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D002894:Chromosomes, Human, Pair 4; D003001:Cloning, Molecular; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000235:genetics*; D051605:Kv Channel-Interacting Proteins / Q000235:genetics*; D019656:Loss of Heterozygosity; D016254:Mutagenesis, Insertional; D014178:Translocation, Genetic
C496753:KCNIP4 protein, human; D051605:Kv Channel-Interacting Proteins