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

Journal Article · Fri Nov 01 04:00:00 EST 1996 · American Journal of Human Genetics

OSTI ID:508227

Kato, Mitsuo V; Nagayoshi, Mariko; Shimuzu, Takashi ^[1]

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1. Kyoto Univ. (Japan); and others

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{prime} genomic region of the human HTR2 gene was cloned by PCR-mediated method. Only the 5{prime} 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 an 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. 33 refs., 5 figs., 2 tabs.

• OSTI ID: 508227
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 5 Vol. 59; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DNA-CLONING
EPIDEMIOLOGY
GENE REGULATION
GENETIC MAPPING
GENETICS
GENOTYPE
HEREDITARY DISEASES
HUMAN CHROMOSOME 13
METHYLATION
MUTATION FREQUENCY
PATIENTS
POLYMERASE CHAIN REACTION
RECEPTORS
SENSE ORGANS DISEASES
SEROTONIN
SEX DEPENDENCE