Stanford Home
Ovarian Kaleidoscope Database (OKdb)

Home

History

Transgenic Mouse Models

INFORGRAPHICS

Search
Submit
Update
Chroms
Browse
Admin

Hsueh lab

HPMR

Visits
since 01/2001:
176557

B melanoma antigen OKDB#: 4580
 Symbols: BAGE Species: human
 Synonyms: BAGE1, CT2.1,ATQL1,  Locus: 21p11.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
Mammalian Reproductive Genetics   Endometrium Database Resource   Orthologous Genes   UCSC Genome Browser   GEO Profiles new!   Amazonia (transcriptome data) new!

R-L INTERACTIONS   MGI

DNA Microarrays
SHOW DATA ...
link to BioGPS
General Comment NCBI Summary: This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). [provided by RefSeq, Jul 2008]
General function
Comment
Cellular localization
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 1 mutations

Species: human
Mutation name: None
type: naturally occurring
fertility: infertile - ovarian defect
Comment: Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility. Guediche N et al. Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by conventional banding cytogenetics. This study describes four patients with sSMC in relation with infertility. Patient 1 had primary infertility. His brother, fertile, carried the same sSMC (patient 2). Patient 3 presented polycystic ovary syndrome and patient 4 primary ovarian insufficiency. Cytogenetic studies, array comparative genomic hybridization (CGH) and sperm analyses were compared with cases previously reported. sSMC corresponded to the 15q11.2 region (patients 1 and 2), the centromeric chromosome 15 region (patient 3) and the 21p11.2 region (patient 4). Array CGH showed 3.6-Mb gain for patients 1 and 2 and 0.266-Mb gain for patient 4. Sperm fluorescent in-situ hybridization analyses found ratios of 0.37 and 0.30 of sperm nuclei with sSMC(15) for patients 1 and 2, respectively (P<0.001). An increase of sperm nuclei with disomy X, Y and 18 was noted for patient 1 compared with control and patient 2 (P<0.001). Among the genes mapped in the unbalanced chromosomal regions, POTE B and BAGE are related to the testis and ovary, respectively. The implication of sSMC in infertility could be due to duplication, but also to mechanical effects perturbing meiosis. Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by conventional banding cytogenetics. Previous reports of sSMC in relation with infertility have not studied the size, chromosomal regions and genes involved. We describe a series of four patients with sSMC in relation with infertility. Patient 1 had primary infertility. His brother, fertile, carried the same sSMC (patient 2). Patient 3 presented polycystic ovarian syndrome and patient 4 suffered from primary ovarian insufficiency. Cytogenetic studies including array comparative genomic hybridization (CGH), phenotypic findings and sperm chromosomal content were compared to cases previously reported. sSMC corresponded to the 15q11.2 chromosomal region (patients 1 and 2), the centromeric chromosome 15 region (patient 3) and the 21p11.2 chromosomal region (patient 4). Array CGH showed a 3.6-Mb gain for patients 1 and 2, and a 0.266-Mb gain for patient 4. Patient 3 presented a sSMC(15) that did not contain euchromatin. Sperm FISH analyses found respectively ratios of 0.37 and 0.30 of sperm nuclei with sSMC(15) on total counted cells for patients 1 and 2 (P<0.001). A significant increase in the proportions of sperm nuclei with disomy X, Y and 18 was noted for patient 1 compared with control donor and patient 2 (P<0.001). Among the genes mapped in the unbalanced chromosomal regions for the sSMC studied, the POTE B and BAGE genes were related to testis and ovary, respectively. The implication of sSMC in infertility could be due to the duplication of these genes but also to mechanical effects of the sSMC perturbing meiosis.

Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
KEGG Pathways
Recent Publications
None
Search for Antibody


created: Nov. 30, 2011, 10:30 a.m. by: hsueh   email:
home page:
last update: Nov. 30, 2011, 10:31 a.m. by: hsueh    email:



Use the back button of your browser to return to the Gene List.

Click here to return to gene search form