Regional mapping of the human gene encoding the novel pituitary polypeptide 7B2 to chromosome 15q13→q14 by in situ hybridization

Roebroek, Anton; Dehaen, M.R.M.; Bokhoven, Adrie van; Martens, G.J.M.; Marynen, Peter; Berghe, Herman Van den; Ven, Wim J.M. Van de

doi:10.1159/000132749

Cited by 17 publications

(8 citation statements)

References 6 publications

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“…Other known brain-expressed genes in this region, including tight junction protein 1 (TJP1) at 15q13 [Mohandas et al, 1995], cysteine knot superfamily 1, bone morphogenetic protein (BMP) antagonist 1 (CKTSF1B1) at 15q13±15 [Topol et al, 2000], and secretory granule neuroendocrine protein 1 (SGNE1) at 15q13±14 [Roebroek et al, 1989]. These might also be postulated as potential candidate genes accounting for the positive linkage signals in this study, though the function of some of these genes is still uncertain and their functional signi®cance for schizophrenia is unknown.…”

Section: Discussionmentioning

confidence: 99%

Suggestive evidence for linkage of schizophrenia to markers at chromosome 15q13–14 in Taiwanese families

et al. 2001

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In order to evaluate the linkage of schizophrenia to loci at chromosome 15q, we genotyped six microsatellite markers at chromosome 15q11-14 in 52 Taiwanese schizophrenic families. Two phenotype models (narrow: DSM-IV schizophrenia only; and broad: including schizophrenia, schizoaffective, and other nonaffective psychotic disorders) were used to define the disease phenotype. Maximum nonparametric linkage scores (NPL scores) of 3.33 (P = 0.0003) and 2.96 (P = 0.0008) were obtained at the marker D15S976 under broad and narrow models, respectively. Positive linkage results were also observed at the marker D15S1360, previously reported to have significant linkage to a neurophysiological deficit of schizophrenia, with NPL scores of 2.71 (P = 0.003) and 2.78 (P = 0.002) under broad and narrow models, respectively. The results provide suggestive linkage evidence of schizophrenia to loci at chromosome 15q13-14 in an ethnically distinct Taiwanese sample.

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Section: Discussionmentioning

confidence: 99%

Suggestive evidence for linkage of schizophrenia to markers at chromosome 15q13–14 in Taiwanese families

et al. 2001

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“…An extensive search for potential candidate genes in various public databases (including http://genome.ucsc.edu/andhttp://www.gdb.org/) revealed five genes which are known to be expressed in the central nervous and/or visual system and which map distal to the common PWS‐deletion breakpoints but lie inside the deletion in the present patient. These are: APBA2 (19); CHRNA7 (20); SGNE1 (21); RYR3 (22); and CKTSF1B1 (23). Reported PWS cases with deletion of the entire proximal 15q segment (e.g.…”

Section: Discussionmentioning

confidence: 99%

Molecular characterization of a unique de novo 15q deletion associated with Prader–Willi syndrome and central visual impairment

et al. 2003

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We report a 2-year-old boy with Prader-Willi Syndrome (PWS) caused by a deletion of the PWS critical region as a result of an unbalanced translocation t(3;15). Additional features, including central visual impairment, relative macrocephaly, retrognathia, preauricular tags, and bilateral club-feet, were noticed. The extension of the deletion was determined by fluorescence in situ hybridization (FISH) analysis using 11 region-specific YAC clones. Nine YACs were found to be deleted, allowing us to determine that the deletion is larger than in patients with typical PWS deletions. The karyotype of this patient can thus be designated: 45,XY,-15,der(3)t(3;15)(qter;q14).ish der(3)t(3;15)(qter;q14) (wcp3+,wcp15+,D15S10-,PML+,D15Z1-,D3S4560+,801_f_9x1, 815_e_6x2) de novo. Molecular analyses using seven polymorphic markers helped to narrow down the breakpoint between marker ACTC.PC3 and the distal end of the YAC 815_e_6. These results provide evidence that haploinsufficiency for genes in 15q13-q14, not affected in common PWS deletions, is associated with the additional features found in the patient, including a central visual impairment.

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“…As reported in HGM10.5 several groups had isolated DNA segments from this translocation breakpoint (Lemons et al, 1990;Borrow et al, 1990) and have now used these breakpoint-derived segments to identify the retinoic acid receptor a gene (RARA) (Goddard et al, 1991;de The et al, 1990;Pandolfi et al, 1991). In an attempt to discern the biologic significance of this translocation the adjacent DNA from the chromosome 15 side of this translocation breakpoint was isolated and used to identify a cDNA for the gene designated PML, for promyelocytic leukemia (Goddard et al, 1991;de The et al, 1990;Pandolfi et al, 1991). This gene was rearranged in 19 of 20 samples from patients with APL and produced a novel transcript that was detected with both PML and RARA (Goddard et al, 1991).…”

Section: New Assignmentsmentioning

confidence: 99%

Report of the committee on the genetic constitution of chromosome 15

Donlon¹,

Malcolm²,

Kent³

1991

Cytogenet Genome Res

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Regional mapping of the human gene encoding the novel pituitary polypeptide 7B2 to chromosome 15q13→q14 by in situ hybridization

Cited by 17 publications

References 6 publications

Suggestive evidence for linkage of schizophrenia to markers at chromosome 15q13–14 in Taiwanese families

Suggestive evidence for linkage of schizophrenia to markers at chromosome 15q13–14 in Taiwanese families

Molecular characterization of a unique de novo 15q deletion associated with Prader–Willi syndrome and central visual impairment

Report of the committee on the genetic constitution of chromosome 15

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