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PMID: 8900237 Published · ppublish English Journal Article

Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma.

American journal of human genetics ·Vol. 59 ·No. 5 ·1996-11-00 ·Pages 1084-90

Kato MV, Shimizu T, Nagayoshi M, Kaneko A, Sasaki MS, Ikawa Y

Abstract

Epidemiological and genetic studies of retinoblastoma (RB) suggested that imprinted genes might be genetically linked to the RB gene. In this study, we found that the human serotonin-receptor, HTR2, gene, which had been mapped nearby the RB gene on chromosome 13, was expressed only in human fibroblasts with a maternal allele and not in cells without a maternal allele. The 5' genomic region of the human HTR2 gene was cloned by PCR-mediated method. Only the 5' region of the gene was methylated in cells with the maternal gene, and it was not methylated in cells without the maternal gene. A polymorphism of PvuII site of the gene was also found and useful for the segregation analysis in a family of a RB patient and for analysis of loss of heterozygosity on chromosome 13 in tumor and its parental origin. These results suggest that the human HTR2 gene might be affected by genomic imprinting and that exclusive expression of the maternal HTR2 gene may be associated with the delayed occurrence of RB, which had lost the maternal chromosome 13.

MeSH Terms
Alleles Base Sequence Chromosomes, Human, Pair 13 Female Genomic Imprinting Humans Male Molecular Sequence Data Polymorphism, Genetic Receptors, Serotonin/genetics Retinoblastoma/etiology,genetics
Chemicals
Receptors, Serotonin
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Kato M V
Laboratory of Molecular Oncology, Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN). [email protected]
Shimizu T
Nagayoshi M
Kaneko A
Sasaki M S
Ikawa Y
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Email
[email protected]
Published
1996-11-00
Pages
1084-90
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1914818
Subset
IM
Databases
GENBANK
D87030
External Links
PubMed source PMC Full Text View journal details
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