Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma

Deimling, Florian von; Scharf, Jeremiah M.; Liehr, Thomas; Rothe, Marcus; Kelter, Arndt-René; Albers, Peter; Dietrich, William F.; Kunkel, Louis M.; Wernert, Nicolas; Wirth, Brunhilde

doi:10.1007/s004399900067

Cited by 18 publications

(1 citation statement)

References 45 publications

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“…This gene is thus not a reasonable positional Mcs1 candidate. Two other potential candidate genes, Radl7, involved in DNA damage-dependent checkpoints (von Deimling et al 1999), and Naip, involved in apoptosis control, also map distally to the Mcs1 region: indeed, they map more distally than Pik3r1 (see, Fig. 1, the cytogenetic position of these two genes and, in Fig.…”

Section: Resultsmentioning

confidence: 94%

Analysis of candidate genes included in the mammary cancer susceptibility 1 (Mcs1) region

et al. 2001

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The rat strain COP is resistant to spontaneous and carcinogen-induced mammary cancer, whereas the strain WF is susceptible. Using genetic linkage analysis of (WF x COP) F1 x WF backcrosses, LC Hsu, LA Shepel and co-workers showed that a region at the centromeric end of Chromosome (Chr) 2 (2q1) segregates with the sensitivity to mammary cancer development. The responsible locus was named Mcs1 (for mammary cancer susceptibility 1). We have developed the chromosome map of the 2q1 region by localizing 18 genes, 4 ESTs, and several anonymous markers, using radiation hybrids and fluorescence in situ hybridization. The region containing Mcs1 was delineated to 2q12-q14. Five of the genes (Mef2c, Map1b, Ccnh, Rasa, Rasgrf2) were assigned to this region and were shown to be expressed in the rat mammary glands, while three possible functional candidate genes, Pi3kr1, Rad17, and Naip, were excluded from the critical region. Since cyclin H, encoded by Ccnh, plays an important role in the control of the cell cycle and since the proteins encoded by Rasa and Rasgrf2 control the activity of the RAS oncoprotein, the corresponding genes appeared as both functional and positional Mcs1 candidates. RT-PCR experiments on RNA extracted from mammary glands of the two rat strains (COP, WF) was done. No amino acid sequence difference was found between the two strains. These results argue against the hypothesis that any of these three genes is Mcs1.

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Section: Resultsmentioning

confidence: 94%

Analysis of candidate genes included in the mammary cancer susceptibility 1 (Mcs1) region

et al. 2001

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An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

Wirth¹

2000

Hum. Mutat.

563

193

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Downregulation of RAD17 in head and neck cancer

Zhao

Begum

et al. 2007

Head & Neck

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Background. DNA repair genes play a critical role in maintaining genome stability and have been implicated in tumorigenesis. Head and neck squamous cell carcinoma (HNSCC) often shows chromosomal instability. We examined the expression of human RAD17, a DNA damage cell cycle checkpoint gene, in primary head and neck cancer tissue.Methods. Significance analysis of microarrays was applied to expression array results examining more than 12,000 genes in 7 samples of primary HNSCC and 6 samples of normal control oral epithelial tissue. Additional confirmation was performed by quantitative reverse transcription-polymerase chain reaction (RT-PCR) in these samples and western blot with an additional 12 primary HNSCC and 7 normal samples, followed by loss of heterozygosity (LOH) analysis and quantitative PCR at the RAD17 locus.Results. Multiple checkpoint and DNA repair genes were downregulated in primary head and neck tumor tissue compared with normal control epithelial tissue, including hRAD17. Its Z-score and fold change were À2.5 and 0.39, respectively. The results of normalized, quantitative RT-PCR showed decreased expression of hRAD17 mRNA in tumor tissue (mean value 0.2166) when compared with normal tissue (mean value 0.3957, p < .05). Western blot demonstrated undetectable expression of hRAD17 protein in primary tumor tissue (0/12), while there was strong expression of hRAD17 protein in normal oral mucosal tissue (6/7). To determine possible mechanisms of inactivation, the hRAD17 locus at 5q13 was analyzed using microsatellite markers, showing 70% LOH in 30 primary HNSCCs. Quantitative PCR showed that RAD17 DNA copy number was decreased in the majority of head and neck tumor tissue samples.Conclusion. Loss of hRAD17 expression occurs frequently in HNSCC, is often due to genomic deletion, and may facilitate genomic instability in HNSCC.

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Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma

Cited by 18 publications

References 45 publications

Analysis of candidate genes included in the mammary cancer susceptibility 1 (Mcs1) region

Analysis of candidate genes included in the mammary cancer susceptibility 1 (Mcs1) region

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

Downregulation of RAD17 in head and neck cancer

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