Structure of the Gene Coding for Calcineurin B<i>(PPP3R1)</i>and Mapping to D2S358-D2S1778 (Chromosomal Region 2p15)

Stratakis, Constantine A.; Taymans, Susan E.

doi:10.3109/10425179809105209

Cited by 5 publications

(2 citation statements)

References 11 publications

(10 reference statements)

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“…The linkage of some cases of dyslexia to 2p15 is intriguing because the protein phosphatase calcineurin (which has long been considered a candidate for psychiatric and monogenic brain disorders) is coded for by a gene in the 2p15 region (Stratakis & Taymans 1998). The possible linkage of dyslexia to the region of 11p15.5 near the dopamine D4 receptor gene (Petryshen et al 1999c) is of interest because dopamine is believed to play a central role in neurodevelopment and in many neuropsychiatric disorders.…”

Section: Modes Of Transmission Of Spoken Language Disordersmentioning

confidence: 97%

The Heritability of Language: A Review and Metaanalysis of Twin, Adoption, and Linkage Studies

Stromswold¹

2001

lan

276

198

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Section: Modes Of Transmission Of Spoken Language Disordersmentioning

confidence: 97%

The Heritability of Language: A Review and Metaanalysis of Twin, Adoption, and Linkage Studies

Stromswold¹

2001

lan

276

198

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“…However, the VDR gene, like many other genes, was originally assigned a location by somatic cell hybrid analysis and/or radioactive in situ hybridization (2–5) . Use of new physical and genetic mapping methods has shown that map assignments made with these methods may be misleading and should be considered to be approximations of the true locus (21,22) . In addition, new genomic methods can link VDR with STS that constitute the framework of the currently available maps of chromosome 12 (7–9,11) and thus provide new genetic tools for the investigation of osteoporosis and related disorders.…”

Section: Discussionmentioning

confidence: 99%

The Human Vitamin D Receptor Gene (VDR) Is Localized to Region 12cen-q12 by Fluorescent In Situ Hybridization and Radiation Hybrid Mapping: Genetic and Physical VDR Map

Taymans

Pack

Pak

et al. 1999

Journal of Bone and Mineral Research

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The vitamin D receptor (VDR) is a member of the steroid hormone receptor superfamily of ligand-activated transcription factors. The VDR gene was previously mapped to human chromosome 12q13-12q14, but its precise physical and genetic localization are unknown. The present study reports the mapping of the human VDR gene by radiation hybrid (RH) analysis, the isolation of a bacterial artificial chromosome (BAC) containing this gene, and physical mapping of the VDR gene by fluorescent in situ hybridization (FISH). RH analysis placed the VDR gene locus at chromosome 12cen-q12, flanked by Stanford Human Genome Center (SHGC) 30216 and SHGC 9798 (D12S1892) markers. FISH analysis of a BAC containing the VDR gene confirmed its centromeric location. Thus, we have identified a BAC and genetic markers which can be used in the genetic analysis of the VDR gene and investigation of its involvement in osteoporosis and related disorders. We conclude that the VDR gene is centromeric to its previously reported locus on

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Structure and function of ETAA16: a novel cell surface antigen in Ewing’s tumours

Borowski

Dirksen

Lixin

et al. 2005

Cancer Immunol Immunother

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Immunoscreening of an Ewing's family of tumour (EFT)-derived cDNA library using formerly described EFT-specific antibodies led to the isolation of a 3.5 kb cDNA, named Ewing's tumour-associated antigen 16 (ETAA16). The ETAA16 cDNA shows no homology to any functionally characterised human gene. Only a bovine cDNA expressed in bovine testis and hepatocytes is functionally characterised as it encodes for a junction plaque associated protein and showed a homology of 69.9% at amino acid level to ETAA16. The human cDNA encodes for a 926 amino acid tumour antigen with a calculated molecular weight of 103 kDa. The epitope of the ETAA16-specific antibody, Ak16, covers the central region of the protein which is part of an extra cellular domain. The human ETAA16 gene locus has been assigned to chromosome 2p13-15 by FISH analyses and is confirmed by the human genome sequencing project. As demonstrated by flow cytometry, the cell surface expression of ETAA16 antigen is restricted to ET cell lines and not expressed on other small blue round cell tumours or other kind of tumour. RT-PCR analysis revealed a high expression of ETAA16 in brain, liver and kidney while lung and heart were negative. Immunohistochemistry showed an intracellular expression of ETAA16 in different kind of non-Ewing tumour tissues. These results suggest that ETAA16 may function as a tumour-specific cell surface antigen in EFTs.

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Structure of the Gene Coding for Calcineurin B(PPP3R1)and Mapping to D2S358-D2S1778 (Chromosomal Region 2p15)

Cited by 5 publications

References 11 publications

The Heritability of Language: A Review and Metaanalysis of Twin, Adoption, and Linkage Studies

The Heritability of Language: A Review and Metaanalysis of Twin, Adoption, and Linkage Studies

The Human Vitamin D Receptor Gene (VDR) Is Localized to Region 12cen-q12 by Fluorescent In Situ Hybridization and Radiation Hybrid Mapping: Genetic and Physical VDR Map

Structure and function of ETAA16: a novel cell surface antigen in Ewing’s tumours

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