Identification of a New Human Catenin Gene Family Member (ARVCF) from the Region Deleted in Velo–Cardio–Facial Syndrome

Sirotkin, Howard I.; O'Donnell, Hilary; DasGupta, Ruchira; Halford, Stephanie; Jore, Bruno St.; Puech, Anne; Parimoo, Satish; Morrow, Bernice E.; Skoultchi, Arthur I.; Weissman, Sherman M.; Scambler, Peter J.; Kucherlapati, Raju

doi:10.1006/geno.1997.4627

Cited by 100 publications

(80 citation statements)

References 33 publications

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“…46 Our LD findings between markers parallel their physical location, with one block at the 5 0 -end of COMT (including the 5 0 -end of TXNRD2) and another block at the 3 0 -end of COMT (including the 3 0 -end of ARVCF) and Val 108/158 Met in LD with all other SNPs examined. Consistent with the previous positive family-based schizophrenia association studies, 22,67 which showed the Val 108/158 allele to be overtransmitted, and the recent large populationbased schizophrenia association study 30 showing the Val 108/158 allele more common in cases than controls, we have found overtransmission of the Val 108/158 allele within the tested multimarker haplotypes.…”

Section: Discussionsupporting

confidence: 69%

“…8 ARVCF is a member of the catenin family, a family which plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the outside and the inside of a cell. 46 More recent work has confirmed that ARVCF is indeed part of the cadherin-catenin complex, and may modulate cadherin-mediated junctional structures and cell-cell adhesion in various cell types. 109,110 ARVCF is expressed in the human brain, including the fetal brain, 46 and it is known that members of the catenin family have important roles in developmental patterning.…”

Section: Discussionmentioning

confidence: 96%

“…46 More recent work has confirmed that ARVCF is indeed part of the cadherin-catenin complex, and may modulate cadherin-mediated junctional structures and cell-cell adhesion in various cell types. 109,110 ARVCF is expressed in the human brain, including the fetal brain, 46 and it is known that members of the catenin family have important roles in developmental patterning. 111,112 If ARVCF influences the migration of neural crest cells through its effects on cell-cell adhesion, alterations in the amount or function of ARVCF might contribute to a migratory defect of these cells.…”

Section: Discussionmentioning

confidence: 96%

“…38,39 There are also some linkages here in bipolar disorder studies [40][41][42][43] and meta-analytically. 38 Further interest in the role of COMT, along with its two immediately adjacent genes, proximally thioredoxin reductase 2 (TXNRD2) 44,45 and distally armadillo repeat deleted in velocardiofacial syndrome (ARVCF) 46 in schizophrenia arises from their chromosomal location in the deleted region of chromosome 22q11.2 associated with velocardiofacial syndrome (VCFS), the most common human contiguous gene disorder. Many anomalies have been reported in VCFS, with behavioral manifestations being the most common.…”

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confidence: 99%

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Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia

et al. 2004

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Catechol-O-methyltransferase (COMT) has been implicated in schizophrenia by its function through its roles in monoamine neurotransmitter metabolism and its impact on prefrontal cognition, and also by its position through linkage scans and a strong cytogenetic association. Further support comes from association studies, especially family-based ones examining the COMT variant, Val 108/158 Met. We have studied eight markers spanning COMT and including portions of the two immediately adjacent genes, thioredoxin reductase 2 and armadillo repeat deleted in velocardiofacial syndrome (ARVCF), using association testing in 136 schizophrenia families. We found nominal evidence for association of illness to rs165849 (P ¼ 0.051) in ARVCF, and a stronger signal (global P ¼ 0.0019-0.0036) from three-marker haplotypes spanning the 3 0 portions of COMT and ARVCF, including Val 108/158 Met with Val 108/158 being the overtransmitted allele, consistent with previous studies. We also find Val 108/158 Met to be in linkage disequilibrium with the markers in ARVCF. These findings support previous association signals of schizophrenia to COMT markers, and suggest that ARVCF might contribute to this signal. ARVCF, a member of the catenin family, besides being a positional candidate, is also one due to its function, that is, its potential role in neurodevelopment, which is implicated in schizophrenia pathogenesis by several lines of evidence. Molecular Psychiatry (2005) 10, 353-365.

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Section: Discussionsupporting

confidence: 69%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 96%

mentioning

confidence: 99%

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Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia

et al. 2004

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“…The chromosome 22 breakpoint of the constitutional t(1;22) (p22;q11.2) in the young patient with a malignant ependymoma has been mapped between ARVCF and D22S264 (Rhodes et al, 1997). Considering the order cen -D22S941 -ARVCF -D22S264 -D22S311 -tel (Sirotkin et al, 1997), this would indicate that two different genes are implicated in ependymoma tumorigenesis. Since the precise physical distances in the region under study are not known yet, the presence of a very large gene that is inactivated by mutation in our family and by translocation in the sporadic tumour cannot be excluded at the moment.…”

Section: Discussionmentioning

confidence: 99%

Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter–22q11.2

et al. 1999

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Summar y Ependymomas are glial tumours of the brain and spinal cord. The most frequent genetic change in sporadic ependymoma is monosomy 22, suggesting the presence of an ependymoma tumour suppressor gene on that chromosome. Clustering of ependymomas has been reported to occur in some families. From an earlier study in a family in which four cousins developed an ependymoma, we concluded that an ependymoma-susceptibility gene, which is not the NF2 gene in 22q12, might be located on chromosome 22. To localize that gene, we performed a segregation analysis with chromosome 22 markers in this family. This analysis revealed that the susceptibility gene may be located proximal to marker D22S941 in 22pter-22q11.2. Comparative genomic hybridization showed that monosomy 22 was the sole detectable genetic aberration in the tumour of one of the patients. Loss of heterozygosity studies in that tumour revealed that, in accordance to Knudson's two-hit theory of tumorigenesis, the lost chromosome 22 originated from the parent presumed to have contributed the wild-type allele of the susceptibility gene. Thus, our segregation and tumour studies collectively indicate that an ependymoma tumour suppressor gene may be present in region 22pter-22q11.2.

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Plakophilin, armadillo repeats, and nuclear localization

Klymkowsky

1999

Microsc. Res. Tech.

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Identification of a New Human Catenin Gene Family Member (ARVCF) from the Region Deleted in Velo–Cardio–Facial Syndrome

Cited by 100 publications

References 33 publications

Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia

Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia

Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter–22q11.2

Plakophilin, armadillo repeats, and nuclear localization

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