Identification and Characterization of the Human Homologue (RAI2) of a Mouse Retinoic Acid-Induced Gene in Xp22

Walpole, Susannah M.; Hiriyana, Kelaginamane T.; Nicolaou, Alexia; Bingham, Eve L.; Durham, Jillian; Vaudin, Mark D.; Ross, Mark T.; Yates, John R.; Sieving, Paul A.; Trump, Dorothy

doi:10.1006/geno.1998.5667

Cited by 22 publications

(17 citation statements)

References 48 publications

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“…The RAI2 gene is located at Xp22.3 and contains a single coding exon for a 530 amino acid protein with a high degree of orthologic conservation. Except for a proline-rich domain that lies between amino acids 200 and 268 and which is hypothesized to function in protein binding ( 23 ), the RAI2 protein sequence does not share any known protein domains with other proteins. Thus, RAI2 represents a unique protein.…”

Section: Discussionmentioning

confidence: 99%

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Suppression of Early Hematogenous Dissemination of Human Breast Cancer Cells to Bone Marrow by Retinoic Acid–Induced 2

et al. 2015

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Regulatory pathways that drive early hematogenous dissemination of tumor cells are insuffi ciently defi ned. Here, we used the presence of disseminated tumor cells (DTC) in the bone marrow to defi ne patients with early disseminated breast cancer and identifi ed low retinoic acid-induced 2 (RAI2) expression to be signifi cantly associated with DTC status. Low RAI2 expression was also shown to be an independent poor prognostic factor in 10 different cancer datasets. Depletion of RAI2 protein in luminal breast cancer cell lines resulted in dedifferentiation marked by downregulation of ERα, FOXA1, and GATA3, together with increased invasiveness and activation of AKT signaling. Functional analysis of the previously uncharacterized RAI2 protein revealed molecular interaction with CtBP transcriptional regulators and an overlapping function in controlling the expression of a number of key target genes involved in breast cancer. These results suggest that RAI2 is a new metastasis-associated protein that sustains differentiation of luminal breast epithelial cells. SIGNIFICANCE:We identifi ed downregulation of RAI2 as a novel metastasis-associated genetic alteration especially associated with early occurring bone metastasis in ERα-positive breast tumors. We specifi ed the role of the RAI2 protein to function as a transcriptional regulator that controls the expression of several key regulators of breast epithelial integrity and cancer. Cancer Discov;5(5);

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Section: Discussionmentioning

confidence: 99%

“…Thus far, RAI2 expression has been associated with neural differentiation ( 12 ), and RAI2 transcripts have been detected in different human adult and fetal tissues ( 23 ).…”

Section: Discussionmentioning

confidence: 99%

Suppression of Early Hematogenous Dissemination of Human Breast Cancer Cells to Bone Marrow by Retinoic Acid–Induced 2

et al. 2015

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“…Mammalian homologs of the PcG appear to be involved in the transcriptional repression of HOX genes, key factors during embryonic development [van de Vosse et al, 1998]. RAI2 codes for a retinoic acid induced 2 protein [Walpole et al, 1999]. It is well known that retinoic acid is critical in the patterning and development of the heart.…”

Section: Discussionmentioning

confidence: 99%

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes

Esch¹,

Jansen

Bauters³

et al. 2007

American J of Med Genetics Pt A

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We describe a male patient with a deletion at Xp22, detected by high resolution X-array CGH. The clinical phenotype present in this infant boy, consists of severe encephalopathy, congenital cataracts and tetralogy of Fallot and can be attributed to the deletion of the genes within the interval. Among these deleted genes are the gene for Nance-Horan syndrome and the cyclin-dependent kinase-like 5 gene (CDKL5), responsible for the early seizure variant of Rett syndrome. This is the first description of a male patient with a deletion of these genes, showing the involvement of CDKL5 in severe epileptic encephalopathy in males. Moreover it illustrates the added value of high resolution array-CGH in molecular diagnosis of mental retardation-multiple congenital anomaly cases.

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“…1; Walpole et al 1998). Here, we report the analysis of RAI2 as a candidate gene for NHS by direct sequencing.…”

Section: Introductionmentioning

confidence: 97%

“…RAI2 is the human homologue of a mouse retinoicacid-induced gene (Walpole et al 1998) and has recently been identified in PAC clone dJ389A20 (Walpole et al 1997) within the NHS flanking interval ( Fig. 1; Walpole et al 1998).…”

Section: Introductionmentioning

confidence: 98%

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

Walpole¹,

Ronce

Grayson³

et al. 1999

Human Genetics

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Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, unusual dental morphology, dysmorphic facial features, and developmental delay in some cases. Recent linkage studies have mapped the NHS disease gene to a 3.5-cM interval on Xp22.2 between DXS1053 and DXS443. We previously identified a human homologue of a mouse retinoic-acid-induced gene (RAI2) within the NHS critical flanking interval and have tested the gene as a candidate for Nance-Horan syndrome in nine NHS-affected families. Direct sequencing of the RAI2 gene and predicted promoter region has revealed no mutations in the families screened; RAI2 is therefore unlikely to be associated with NHS.

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Identification and Characterization of the Human Homologue (RAI2) of a Mouse Retinoic Acid-Induced Gene in Xp22

Cited by 22 publications

References 48 publications

Suppression of Early Hematogenous Dissemination of Human Breast Cancer Cells to Bone Marrow by Retinoic Acid–Induced 2

Suppression of Early Hematogenous Dissemination of Human Breast Cancer Cells to Bone Marrow by Retinoic Acid–Induced 2

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

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