A 1.7-Mb YAC Contig around the Human BDNF Gene (11p13): Integration of the Physical, Genetic, and Cytogenetic Maps in Relation to WAGR Syndrome

Rosier, Marie-Françoise; Goguel, A; Martin, Annick; Paslier, Denis Le; Couillin, P.; Houlgatte, Rémi; Bernheim, Alain; Auffray, Charles; Devignes, Marie‐Dominique

doi:10.1006/geno.1994.1583

Cited by 12 publications

(11 citation statements)

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“…D1Z2 DNA and NFZ cDNA were labeled by nick translation in the presence BiotinYeast artificial chromosome (YAC)-containing yeast clones obtained from the Centre d'Etude du Polymorphisme Humain (CEPH) were cultured for 3 days, digested with zymolyase, and the whole DNA was extracted by using the DNA-NOW kit (Biogentex) according to the manufacturer's instructions. Human DNA was specifically amplified by using inter-Ah PCR and was labeled simultaneously by biotin-16-dUTP, as previously described (Rosier et al, 1994). All previously labeled probes were purified on small columns.…”

Section: Preparation and Labeling Of Probes For Fishmentioning

confidence: 99%

Additional copies of a 25 Mb chromosomal region originating from 17q23.1-17qter are present in 90% of high-grade neuroblastomas

Meddeb

Danglot

Chudoba

et al. 1996

Genes Chromosom. Cancer

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Section: Preparation and Labeling Of Probes For Fishmentioning

confidence: 99%

Additional copies of a 25 Mb chromosomal region originating from 17q23.1-17qter are present in 90% of high-grade neuroblastomas

Meddeb

Danglot

Chudoba

et al. 1996

Genes Chromosom. Cancer

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“…These disorders include the WAGR (_W__ilm's tumor, aniridia, genitourinary abnormalities, mental retardation) syndrome (Rosier et al 1994), Beckwith-Weidemann syndrome (Ping et al 1989), Romano-Ward long-QT syndrome type 1 (Keating et al 1991), atrophia areata syndrome (Fossdal et al 1995), Usher syndrome type 1C (USHIC; Smith et al 1992), and familial hyperinsulinism (HI; Glaser et al 1994; Thomas et al 1995a). In addition, evidence for loss of heterozygosity on chromosome 11p has implicated this region in various human neoplasias such as Wilm's tumor, rhabdomyosarcoma, hepatoblas7Corresponding author: E-MAIL:aplab3@imgate.wustl.edu; FAX (314) 362-4833.…”

mentioning

confidence: 99%

Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1.

Ayyagari¹,

Nestorowicz²,

Li³

et al. 1996

Genome Res.

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The Usher syndrome type IC {USHIC} and familial hyperinsulinism [HI) loci have been assigned to chromosome Ilpl4-15.1, within the interval DIIS419-DI1SI310. We have constructed a yeast artificial chromosome {YAC} contig, extending from D11S926 to DIIS899, which encompasses the critical regions for both USHIC and HI and spans an estimated genetic distance of ---4 cM. A minimal set of six YAC clones constitute the contig, with another 22 YACs confirming the order of sequence-tagged sites [STSs) and position of YACs on the contig. A total of 40 STSs, including 10 new STSs generated from YAC insert-end sequences and inter-A/u PCR products, were used to order the clones within the contig. This physical map provides a resource for identification of gene transcripts associated with USHIC, HI, and other genetic disorders that map to the DllS?26-DIIS899 interval.

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“…With respect to the relationship between structural variation of the BDNF gene and psychopathology, several studies have examined the association of BDNF haploinsufficiency with neurodevelopmental abnormalities in WAGR syndrome caused by 11p13 deletions near the location of the BDNF gene . A certain percentage of patients with WAGR syndrome exhibited deletion of the BDNF gene.…”

Section: Discussionmentioning

confidence: 99%

Structural variation in the glycogen synthase kinase 3β and brain‐derived neurotrophic factor genes in Japanese patients with bipolar disorders

Suga

Yoshimoto²,

Numata

et al. 2019

Neuropsychopharm Rep

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Background Lithium is the first‐line drug for the treatment of bipolar disorders (BDs); however, not all patients responded. Glycogen synthase kinase (GSK) 3β and brain‐derived neurotrophic factor (BDNF) play a role in the therapeutic action of lithium. Since structural variations were reported in these genes, it is possible that these genomic variations may be involved in the therapeutic responses to lithium. Method Fifty patients with BDs and 50 healthy subjects (mean age 55.0 ± 15.0 years; M/F 19/31) participated. We examined structural variation of the GSK3β and BDNF genes by real‐time PCR. We examined the influence of structural variation of these genes on the therapeutic responses to lithium and the occurrence of antidepressant‐emergent affective switch (AEAS). The efficacy of lithium was assessed using the Alda scale, and AEAS was evaluated using Young Mania Rating Scale. Results Although we examined structural variations within intron II and VII of the GSK3® gene and from the end of exon IV to intron IV and within exon IX of the BDNF gene, no structural variation was found in BDs. Whereas 5 of 50 patients exhibited three copies of the genomic region within exon IV of the BDNF gene, all healthy subjects had two copies. No difference in the therapeutic efficacy of lithium was found between patients with three and two copies. No difference in the occurrence of AEAS was found between the two groups. Conclusion The amplification of the BDNF gene influenced neither the therapeutic responses to lithium nor the occurrence of AEAS.

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A 1.7-Mb YAC Contig around the Human BDNF Gene (11p13): Integration of the Physical, Genetic, and Cytogenetic Maps in Relation to WAGR Syndrome

Cited by 12 publications

References 0 publications

Additional copies of a 25 Mb chromosomal region originating from 17q23.1-17qter are present in 90% of high-grade neuroblastomas

Additional copies of a 25 Mb chromosomal region originating from 17q23.1-17qter are present in 90% of high-grade neuroblastomas

Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1.

Structural variation in the glycogen synthase kinase 3β and brain‐derived neurotrophic factor genes in Japanese patients with bipolar disorders

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