SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders

Mumm, Steven; Zucchi, Ileana; Pilia, Giuseppe

doi:10.1002/(sici)1096-8628(19971031)72:3<376::aid-ajmg27>3.0.co;2-p

Cited by 11 publications

(5 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Defects in some genes involved in neural development are already known to cause neuropathies in mammals: reelin, a secretory protein, participates in the migration of neurons in the developing nervous system of the mouse, and animals carrying defects in this gene exhibit tremors, dystonia, and ataxia (D'Arcangelo et al 1995). In humans, mutations of L1, a cell-adhesion molecule involved in neuronal migration and differentiation, cause X-linked hydrocephalus, spastic paraplegia type I, and mental retardation, aphasia, shuffling gait and adducted thumbs (MASA) syndrome (Jouet et al 1994); and the loss of Sox-3, a DNA-binding protein expressed predominantly in the developing nervous system, has been demonstrated in patients with X-linked mental retardation (Wolff et al 1997;Mumm et al 1997). Doublecortin was isolated from the YAC clones near the translocation point and showed mutations in X-linked lissencephaly and double cortex syndrome (des Portes et al 1998;Gleeson et al 1998).…”

Section: Discussionmentioning

confidence: 99%

“…Murine reelin, a secretory protein, participates in the migration of neurons in the developing nervous system of the mouse; animals with defects in this gene exhibit tremors, dystonia, and ataxia (D'Arcangelo et al 1995). In humans, mutations of L1, a cell-adhesion molecule involved in neuronal migration and differentiation, cause X-linked hydrocephalus, spastic paraplegia type I, and mental retardation, aphasia, shuffling gait and adducted thumbs (MASA) syndrome (Jouet et al 1994); and Sox-3, a DNA-binding protein expressed predominantly in the developing nervous system, is regarded as a candidate gene for X-linked mental retardation (Mumm et al 1997;Wolff et al 1997).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Expression and chromosomal localization of KIAA0369, a putative kinase structurally related to Doublecortin

et al. 1998

View full text Add to dashboard Cite

Neuropathy in vertebrates can be a consequence of failure of genes involved in the nervous system to be expressed at the correct times and levels during embryonic life. Recently, a brain specific gene, Doublecortin, was cloned and was shown to have mutations in X-linked lissencephaly and double cortex syndrome. KIAA0369 is a putative kinase that is structurally related to Doublecortin. We compared the expression of KIAA0369 with that of Doublecortin, both of which were expressed specifically or predominantly in fetal brain among 20 different tissues examined. The deduced products of both genes contain a unique domain (the Doublecortin [DC] domain), but KIAA0369 also contains a calmodulin-dependent kinase (CaM kinase)-like domain following the DC domain. We found at least four splicing variants of KIAA0369: KIAA0369-AS (type A, short version), KIAA0369-AL (type A, long version), KIAA0369-BS (type B, short version), and KIAA0369-BL (type B, long version). KIAA0369-B, which lacked the DC domain and maintained the kinase domain, was expressed in adult as well as fetal brain, but the variants that included the DC domain, KIAA0369-A, were expressed predominantly in fetal brain. These results suggest that the DC domain plays an important role in the development of the nervous system. In the adult brain, KIAA0369 was expressed in all 15 different regions examined, more intensely in cerebral cortex, occipital pole, frontal lobe, amygdala, and hippocampus, and less intensely in corpus callosum and thalamus. The murine homologs of Doublecortin and KIAA0369 were not detectable in 7-day mouse embryos, but both genes were expressed extensively in 11-day embryos. Human KIAA0369 was mapped by fluorescence in situ hybridization (FISH) to chromosome 13q13-q14.1. The presence of genes related to neuropathy has been reported in this locus.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Expression and chromosomal localization of KIAA0369, a putative kinase structurally related to Doublecortin

et al. 1998

View full text Add to dashboard Cite

show abstract

“…However, it is important to note that the location of HPT centromeric to DXS984 is only 60 times more likely than telomeric, and thus this interval may possibly be larger. The interval between F9 and DXS984 is contained within a YAC contig25 26 and three candidate genes, represented by SOX3,27 28 MCF.2,29 and the expressed sequence tag (EST) AS6,25 have been mapped to this region. SOX3 represents a member of the SRY family of developmental genes and MCF.2 is a member of the guanine nucleotide exchange factors for the RHO family of small GTP binding proteins.…”

Section: Discussionmentioning

confidence: 99%

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.

Trump

Dixon

Mumm

et al. 1998

Journal of Medical Genetics

View full text Add to dashboard Cite

X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. Affected subjects, who are males, suffer from infantile onset of epilepsy and hypocalcaemia, which appears to be the result of an isolated congenital defect of parathyroid gland development; females are not affected and are normocalcaemic. The gene causing HPT has been previously mapped to a 7 cM interval, flanked centromerically by F9 and telomerically by DXS98, in Xq26-q27, and an analysis of mitochondrial DNA has established a common ancestry for these two kindreds. In order to define further the map location of HPT and thereby facilitate its isolation, we have undertaken linkage studies using polymorphic loci whose order has been established as XcenDXSlOOI -DXS294 -DXSl02 -F9 -DXS1232 -DXS984 -CDRl -DXS105 -DXSl205 -DXS1227 -DXS98 -DXS52 -Xqter, within this region. Our results established linkage (lod score >3) between HPT and eight of these 12 loci and indicated that the most likely location of HPT was within a 1.5 Mb interval flanked centromerically by F9 and telomerically by DXS984. Thus, the results of this study have helped to refine the map location of HPT, and this will facilitate the identification of this putative developmental gene and its role in the embryological formation of the parathyroids.(7Med Genet 1998;35:905-909)

show abstract

“…The Xq27 cytogenetic band, as a Giemsa-dark band, is predicted to be extremely poor in genes, especially those of the housekeeping type, but may contain tissue-specific and developmentally regulated genes (Holmquist, 1992). So far, only a few genes have been identified in Xq27: the FMR1 gene, responsible for the fragile-X syndrome (Verkerk et al, 1991), the CDR1 (cerebellar-disease-related antigen; Siniscalco et al, 1991), and the S0X3 gene (Mumm et al, 1997). It is interesting to note that these genes, except FMR1, are intronless and related to brain function.…”

Section: Discussionmentioning

confidence: 99%

“…Another XLMR syndrome is associated with a large deletion that extends from DXS51 (in Xq26 and includes the F9 gene) to a region telomeric of DXS369 (Stevanovic et al, 1993;Mumm et al, 1997). The telomeric breakpoint of this deletion has not been identified and may be in the proximity of the CXorfl gene locus.…”

Section: Discussionmentioning

confidence: 99%

Identification ofCXorfl, a Novel Intronless Gene in Xq27.3, Expressed in Human Hippocampus

Redolfi¹,

Montagna

Mumm

et al. 1998

DNA and Cell Biology

View full text Add to dashboard Cite

We have identified and characterized a novel human gene (Nomenclature Committee of the Genome Database GDB-assigned symbol CXorf1) that maps to the long arm of the X chromosome in Xq27 between loci DXS369 and DXS181, approximately 2.5 Mb centromeric to the FMR1 gene. The CXorf1 gene is conserved in primates, cow, and horse but not in mouse and rat. Northern blot analysis revealed two transcripts, present in the brain and in the G361 melanoma cell line. In situ hybridization experiments performed on sections of human hippocampus showed a clear, uneven localization of the CXorf1 mRNA in specific subfields of this brain area. In particular, CXorf1 was localized in the granular-cell layer of the dentate gyrus and in the CA2-CA3 subfields of Ammon's horn. CXorf1 is one of the first genes from this region to be characterized in detail and, on the basis of its chromosomal location and expression pattern, may have an important function in the brain.

show abstract

SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders

Cited by 11 publications

References 13 publications

Expression and chromosomal localization of KIAA0369, a putative kinase structurally related to Doublecortin

Expression and chromosomal localization of KIAA0369, a putative kinase structurally related to Doublecortin

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.

Identification ofCXorfl, a Novel Intronless Gene in Xq27.3, Expressed in Human Hippocampus

Contact Info

Product

Resources

About