Human corticotropin releasing hormone gene is located on the long arm of chromosome 8

Arbiser, Jack L.; Morton, C.C.; Bruns, G. A. P.; Majzoub, Joseph A.

doi:10.1159/000132525

Cited by 65 publications

(15 citation statements)

References 9 publications

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“…This lod score was calculated using only the affected members of the family. When these markers were reanalysed including all family members, the lod score for marker D8S543 dropped to [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] (table 2B). The maximum lod score obtained when the entire family was genotyped was 2-25 at a recombination frequency of 0 for marker D8S530 (which maps to the same region as D8S543).…”

Section: Resultsmentioning

confidence: 99%

Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.

Wallace

Berkovic

Howell

et al. 1996

Journal of Medical Genetics

180

107

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Febrile convulsions affect 2 to 5% of all children under the age of 5 years. These convulsions probably have a variety of causes, but a genetic component has long been recognised. A large and remarkable family is described in which febrile convulsions appear to result from autosomal dominant inheritance at a single major locus. A gene for febrile convulsions was excluded from regions of previously mapped epilepsy genes and extension of exclusion mapping, using microsatellite markers, to the entire genome implied that a locus on chromosome 8q13-21 may be involved. Linkage analysis of markers on chromosome 8 gave a multipoint lod score of 3 40, maximised over different values of penetrance and phenocopy rate, for linkage between the gene for febrile convulsions and the region flanked by markers D8S553 and D8S279. This lod score was calculated assuming the disease has a penetrance of 60% and a phenocopy rate of 3%. Although there was no indication of linkage other than to markers on chromosome 8, linkage remains suggestive rather than significant because ofthe maximisation procedure applied. The support for linkage involving a major gene, as opposed to an alternative hypothesis of a complex inheritance pattern, relied upon the assumption of low penetrance. (J Med Genet 1996;33:308-312)

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Section: Resultsmentioning

confidence: 99%

Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.

Wallace

Berkovic

Howell

et al. 1996

Journal of Medical Genetics

180

107

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“…In both sites, CRH is a product of the same gene, located on the long arm of chromosome eight (35). In placental cultures, glucocorticoid stimulates an increase in CRH mRNA transcribed from an initiation site 30 nucleotides downstream from a consensus promoter element (Fig.…”

Section: Resultsmentioning

confidence: 99%

Glucocorticoid stimulates expression of corticotropin-releasing hormone gene in human placenta.

Robinson

Emanuel

Frim

et al. 1988

Proc. Natl. Acad. Sci. U.S.A.

420

201

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Primary cultures of purified human cytotrophoblasts have been used to examine the expression of the corticotropin-releasing hormone (CRH) gene in placenta. We report here that glucocorticoids stimulate placental CRH synthesis and secretion in primary cultures of human placenta. This stimulation is in contrast to the glucocorticoid suppression of CRH expression in hypothalamus. The positive regulation of CRH by glucocorticoids suggests that the rise in CRH preceding parturition could result from the previously described rise in fetal glucocorticoids. Furthermore, this increase in placental CRH could stimulate, via adrenocorticotropic hormone, a further rise in fetal glucocorticoids, completing a positive feedback loop that would be terminated by delivery.Corticotropin-releasing hormone (CRH), one ofthe hypothalamic components of the hypothalamic-pituitary-adrenal axis (1, 2), is also present in human placenta, where its synthesis and secretion rise more than 20-fold in the 5 weeks preceding parturition (3, 4). The secretion of glucocorticoids by the adrenal gland of the human fetus also increases markedly during this same period (5), although the manner in which glucocorticoids interact with placental CRH is not known. Defining the nature of this interaction is a prerequisite to determining the role of these hormones in human pregnancy. To examine the effect of glucocorticoids on placental CRH gene expression, we have purified and characterized cultures of human cytotrophoblasts and performed blot hybridization analysis of RNA isolated from cultured cells. METHODSCytotrophoblast Purification and Immunocytochemistry. Full-gestation human placentae were obtained at elective Caesarean section, and cytotrophoblasts were enzymatically dispersed, purified by Percoll gradient centrifugation, and cultured as described (6). For immunocytochemistry, cultures were washed in several changes of cold 0.01 M phosphate, pH 7.4/0.9% NaCl (PBS), and fixed for 10 min in cold acetone/methanol (1:1, vol/vol) or 2% paraformaldehyde in PBS. Slides were air dried and stored at -70°C until immunocytochemistry was performed. Acetone/methanolfixed cells were allowed to react with anti-cytotrophoblast monoclonal antibody 18B/A5 (kindly provided by Y. W. Loke, Univ. of Cambridge) (7). Avidin-biotin-peroxidase (Vectastain, Burlingame, CA) and 0.05% diaminobenzidine (Sigma) were used to localize bound antibody. Paraformaldehyde-fixed cells were allowed to react with a polyclonal anti-placental alkaline phosphatase antiserum (Dako, Santa Barbara, CA) and horseradish peroxidase. All sections were lightly counterstained with Gill's hematoxylin. tTo whom reprint requests should be addressed. 5244The publication costs of this article were defrayed in part by page charge payment. This article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. §1734 solely to indicate this fact.

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“…CRH has been assigned to human Chromosome (Chr) 8 by Southern blot analysis of somatic cell hybrids and localized to band 8q13 by in situ hybridization of metaphase chromosomes (Arbiser et al 1988). Synteny homology between mice and humans suggested that Crh would map to mouse Chr 3, 4, 8, or 15 (Nadeau et al 1992).…”

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confidence: 99%

“…The genetic distance (cM) and standard error were calculated as previously described (Buckwalter et al 1991). The locations of the human genes are given in parentheses (Arbiser et al 1988;Ginns et al 1985;Nakai et al 1987;Seigel et al 1984). Fig.…”

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confidence: 99%