An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

Bowl, M.R., Nesbit, M.A., Harding, B., Levy, E., Jefferson, A., Volpi, E.V., Rizzoti, K., Lovell-Badge, R., Schlessinger, D., Whyte, M.P. and Thakker, R.V. 2005. An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. Journal of Clinical Investigation. 115 (10), pp. 2822-2831. https://doi.org/10.1172/jci24156

TitleAn interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
TypeJournal article
AuthorsBowl, M.R., Nesbit, M.A., Harding, B., Levy, E., Jefferson, A., Volpi, E.V., Rizzoti, K., Lovell-Badge, R., Schlessinger, D., Whyte, M.P. and Thakker, R.V.
Abstract

X-linked recessive hypoparathyroidism, due to parathyroid agenesis, has been mapped to a 906-kb region on Xq27 that contains 3 genes (ATP11C, U7snRNA, and SOX3), and analyses have not revealed mutations. We therefore characterized this region by combined analysis of single nucleotide polymorphisms and sequence-tagged sites. This identified a 23- to 25-kb deletion, which did not contain genes. However, DNA fiber–FISH and pulsed-field gel electrophoresis revealed an approximately 340-kb insertion that replaced the deleted fragment. Use of flow-sorted X chromosome–specific libraries and DNA sequence analyses revealed that the telomeric and centromeric breakpoints on X were, respectively, approximately 67 kb downstream of SOX3 and within a repetitive sequence. Use of a monochromosomal somatic cell hybrid panel and metaphase-FISH mapping demonstrated that the insertion originated from 2p25 and contained a segment of the SNTG2 gene that lacked an open reading frame. However, the deletion-insertion [del(X)(q27.1) inv ins (X;2)(q27.1;p25.3)], which represents a novel abnormality causing hypoparathyroidism, could result in a position effect on SOX3 expression. Indeed, SOX3 expression was demonstrated, by in situ hybridization, in the developing parathyroid tissue of mouse embryos between 10.5 and 15.5 days post coitum. Thus, our results indicate a likely new role for SOX3 in the embryonic development of the parathyroid glands.

JournalJournal of Clinical Investigation
Journal citation115 (10), pp. 2822-2831
ISSN0021-9738
1558-8238
Year2005
PublisherAmerican Society for Clinical Investigation
Digital Object Identifier (DOI)https://doi.org/10.1172/jci24156
PubMed ID16167084
Web address (URL)http://europepmc.org/abstract/med/16167084
Publication dates
Published03 Sep 2005

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Volpi, E.V., Sheer, D. and Uhlmann, F. 2001. Cohesion, but not too close. Current Biology. 11 (10), p. R378. https://doi.org/10.1016/s0960-9822(01)00212-3

Large-scale chromatin organization of the major histocompatibility complex and other regions of human chromosome 6 and its response to interferon in interphase nuclei.
Volpi, E.V., Chevret, E., Jones, T., Vatcheva, R., Williamson, J., Beck, S., Campbell, R.D., Goldsworthy, M., Powis, S.H., Ragoussis, J., Trowsdale, J. and Sheer, D. 2000. Large-scale chromatin organization of the major histocompatibility complex and other regions of human chromosome 6 and its response to interferon in interphase nuclei. Journal of Cell Science. 113 (Pt 9), pp. 1565-1576. https://doi.org/10.1242/jcs.113.9.1565

Mini review: form and function in the human interphase chromosome
Chevret, E., Volpi, E.V. and Sheer, D. 2000. Mini review: form and function in the human interphase chromosome. Cytogenetics and Cell Genetics. 90 (1-2), pp. 13-21. https://doi.org/10.1159/000015654

Nucleotide sequence and chromosomal mapping of the 5S rDNA repeat of the crustacean Proasellus coxalis.
Pelliccia, F., Barzotti, R., Volpi, E.V., Bucciarelli, E. and Rocchi, A. 1998. Nucleotide sequence and chromosomal mapping of the 5S rDNA repeat of the crustacean Proasellus coxalis. Genome. 41 (1), pp. 129-123. https://doi.org/10.1139/g97-110

Numerical abnormalities of chromosomes 1 and 10 in endometrial adenocarcinoma: fluorescence in situ hybridization analysis of 23 archival paraffin-embedded samples.
Muresu, R., Cossu, A., Scarpa, A.M., Volpi, E.V., Rocca, P.C., Pintus, A., Tibiletti, M.G., Tanda, F., Pirastu, M. and Massarelli, G. 1998. Numerical abnormalities of chromosomes 1 and 10 in endometrial adenocarcinoma: fluorescence in situ hybridization analysis of 23 archival paraffin-embedded samples. Cancer Genetics and Cytogenetics. 107 (1), pp. 37-42. https://doi.org/10.1016/s0165-4608(98)00059-4

An integrated physical and genetic map spanning chromosome band 10q24.
Gray, I.C., Fallowfield, J., Ford, S., Nobile, C., Volpi, E.V. and Spurr, N.K. 1997. An integrated physical and genetic map spanning chromosome band 10q24. Genomics. 43 (1), pp. 85-88. https://doi.org/10.1006/geno.1997.4809

Detailed physical analysis of a 1.5-megabase YAC contig containing the MXI1 and ADRA2A genes.
Manca, A., Volpi, E.V., Laficara, F., Muresu, R., Gray, I.C., Spurr, N.K. and Nobile, C. 1997. Detailed physical analysis of a 1.5-megabase YAC contig containing the MXI1 and ADRA2A genes. Genomics. 45 (2), pp. 407-411. https://doi.org/10.1006/geno.1997.4924

Taxonomic and biogeographic analysis of the Proasellus coxalis-group (Crustacea, Isopoda, Asellidae) in Sicily, with description of Proasellus montalentii n.sp.
Stoch, F., Valentino, F. and Volpi, E. 1996. Taxonomic and biogeographic analysis of the Proasellus coxalis-group (Crustacea, Isopoda, Asellidae) in Sicily, with description of Proasellus montalentii n.sp. Hydrobiologia. 317, pp. 247-258. https://doi.org/10.1007/bf00036474

More detailed characterization of some of the HL60 karyotypic features by fluorescence in situ hybridization.
Volpi, E.V., Vatcheva, R., Labella, T. and Gan, S.U. 1996. More detailed characterization of some of the HL60 karyotypic features by fluorescence in situ hybridization. Cancer Genetics and Cytogenetics. 87 (2), pp. 103-106. https://doi.org/10.1016/0165-4608(95)00214-6

Molecular and genetic studies on the region of translocation and duplication in the neuroblastoma cell line NGP at the 1p36.13-p36.32 chromosomal site
Casciano, I., Marchi, J.V.M., Muresu, R., Volpi, E.V., Rozzo, C., Opdenakker, G. and Romani, M. 1996. Molecular and genetic studies on the region of translocation and duplication in the neuroblastoma cell line NGP at the 1p36.13-p36.32 chromosomal site. Oncogene. 12 (10), pp. 2101-2108.

Simple DNA repeats and sex chromosome differentiation in asellus aquaticus (Crustacea, isopoda)
Volpi, E.V., Pelliccia, F., Lanza, V., Barzotti, R. and Rocchi, A. 1995. Simple DNA repeats and sex chromosome differentiation in asellus aquaticus (Crustacea, isopoda). Heredity. 75, p. 267–272. https://doi.org/10.1038/hdy.1995.134

Cytogenetic and molecular studies on the neuroblastoma cell line NGP: identification of a reciprocal t(1;15) involving the "consensus region" 1p36.1.
Muresu, R., Casciano I., Volpi, E.V., Siniscalco, M. and Romani, M. 1995. Cytogenetic and molecular studies on the neuroblastoma cell line NGP: identification of a reciprocal t(1;15) involving the "consensus region" 1p36.1. Genes, Chromosomes & Cancer. 13 (1), pp. 66-71. https://doi.org/10.1002/gcc.2870130111

Subregional mapping of the human lymphocyte-specific protein tyrosine kinase gene (LCK) to 1p35-->p34.3 and its position relative to the 1p marker D1S57.
Volpi, E.V., Romani, M. and Siniscalco, M. 1994. Subregional mapping of the human lymphocyte-specific protein tyrosine kinase gene (LCK) to 1p35-->p34.3 and its position relative to the 1p marker D1S57. Cytogenetics and Cell Genetics. 67, pp. 187-189. https://doi.org/10.1159/000133819

Telomeric sequences of ase/lus aquaticus (Crust. isop.)
Pelliccia, F., Volpi, E.V., Lanza, V., Gaddini, L., Balding, A. and Rocchi, A. 1994. Telomeric sequences of ase/lus aquaticus (Crust. isop.). Heredity. 72, pp. 78-80. https://doi.org/10.1038/hdy.1994.9

Concurrent mapping of an adenovirus 5/SV40 integration site and the U1 snRNA cluster (RNU1) within 400 kb of the chromosome region 1p36.1.
Romani, M., Baldini, A., Volpi, E., Casciano, I., Nobile, C., Muresu, R. and Siniscalco, M. 1994. Concurrent mapping of an adenovirus 5/SV40 integration site and the U1 snRNA cluster (RNU1) within 400 kb of the chromosome region 1p36.1. Cytogenetics and Cell Genetics. 67, pp. 37-40. https://doi.org/10.1159/000133793

MULTIPRINS: a method for multicolour primed in situ labelling
Volpi, E. and Baldini, A. 1993. MULTIPRINS: a method for multicolour primed in situ labelling. Chromosome Research. 1, pp. 257-260. https://doi.org/10.1007/bf00710131

Morphological differentiation of a sex chromosome and ribosomal genes in asellus aquaticus (Crust. Isop.)
Volpi, E.V., Pelliccia, F., Lanza, V., Di Castro, M. and Rocchi, A. 1992. Morphological differentiation of a sex chromosome and ribosomal genes in asellus aquaticus (Crust. Isop.). Heredity. https://doi.org/10.1038/hdy.1992.153

GATA repeats in the genome of Asellus aquaticus (Crustacea, Isopoda).
Pelliccia, F., Di Castro, M., Lanza, V., Volpi, E.V. and Rocchi, A. 1991. GATA repeats in the genome of Asellus aquaticus (Crustacea, Isopoda). Chromosoma. 100, pp. 152-155. https://doi.org/10.1007/bf00337243

Light-dark cycle and mitotic index in Asellus aquaticus (L.) (Crustacea, Isopoda)
Valentino, F., Volpi, E.V., Antolini, R. and Migliore, L. 1990. Light-dark cycle and mitotic index in Asellus aquaticus (L.) (Crustacea, Isopoda). Genetica. 82, pp. 147-150. https://doi.org/10.1007/bf00124645

The genetic isolation between some populations of Proasellus coxalis
Volpi, E.V., Antolini, R. and Valentino, F. 1989. The genetic isolation between some populations of Proasellus coxalis. Journal of Zoological Systematics and Evolutionary Research. 27 (3), pp. 246-251. https://doi.org/10.1111/j.1439-0469.1989.tb00346.x

Characterization of the karyotype of proasellus meridianusby differential staining techniques
Di Castro, M., Lanza, V., Volpi, E.V. and Rocchi, A. 1989. Characterization of the karyotype of proasellus meridianusby differential staining techniques. Caryologia. 42 (3-4), pp. 235-242. https://doi.org/10.1080/00087114.1989.10796970

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