2024-03-29T11:28:21Z
https://soar-ir.repo.nii.ac.jp/oai
oai:soar-ir.repo.nii.ac.jp:00007183
2022-12-14T03:54:10Z
461:848:849
Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization
Kawamura, Rie
Tanabe, Hideyuki
Wada, Takahito
Saitoh, Shinji
Fukushima, Yoshimitsu
Wakui, Keiko
Genome organization
Spatial positioning
3D-FISH
SNRPN
Chromatin
Epigenetic
信州大学博士(医学)・学位論文・平成24年7月17日授与(甲第928号)・河村理恵
The final publication is available at link.springer.com
The three-dimensional (3D) structure of the genome is organized non-randomly and plays a role in genomic function via epigenetic mechanisms in the eukaryotic nucleus. Here, we analyzed the spatial positioning of three target regions; the SNRPN, UBE3A, and GABRB3 genes on human chromosome 15q11.2-q12, a representative cluster of imprinted regions, in the interphase nuclei of B lymphoblastoid cell lines, peripheral blood cells, and skin fibroblasts derived from normal individuals to look for evidence of genomic organization and function. The positions of these genes were simultaneously visualized, and all inter-gene distances were calculated for each homologous chromosome in each nucleus after three-color 3D fluorescence in situ hybridization. None of the target genes were arranged linearly in most cells analyzed, and GABRB3 was positioned closer to SNRPN than UBE3A in a high proportion of cells in all cell types. This was in contrast to the genomic map in which GABRB3 was positioned closer to UBE3A than SNRPN. We compared the distances from SNRPN to UBE3A (SU) and from UBE3A to GABRB3 (UG) between alleles in each nucleus, 50 cells per subject. The results revealed that the gene-to-gene distance of one allele was longer than that of the other and that the SU ratio (longer/shorter SU distance between alleles) was larger than the UG ratio (longer/shorter UG distance between alleles). The UG distance was relatively stable between alleles; in contrast, the SU distance of one allele was obviously longer than the distance indicated by the genome size. The results therefore indicate that SNRPN, UBE3A, and GABRB3 have non-linear and non-random curved spatial positioning in the normal nucleus, with differences in the SU distance between alleles possibly representing epigenetic evidence of nuclear organization and gene expression.
Article
CHROMOSOME RESEARCH. 20(6):659-672 (2012)
SPRINGER
2012-08
eng
journal article
VoR
http://hdl.handle.net/10091/16848
https://soar-ir.repo.nii.ac.jp/records/7183
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=pubmed&term=22801776
22801776
https://doi.org/10.1007/s10577-012-9300-5
10.1007/s10577-012-9300-5
0967-3849
AA10992704
CHROMOSOME RESEARCH
20
6
659
672
https://soar-ir.repo.nii.ac.jp/record/7183/files/H24Kou928_Kawamura.pdf
application/pdf
528.3 kB
2015-09-25