skip to main content
OSTI.GOV title logo U.S. Department of Energy
Office of Scientific and Technical Information

Title: Localisation of the gene for cylindromatosis (turban tumor syndrome) to chromosome 9p12-13

Abstract

Cylindromatosis (multiple cylindromas, tomato syndrome syndrome, turban tumor syndrome) is a rare autosomal dominant disease characterized by the development of multiple, slow growing neoplasms of the skin appendages. The tumors, known as dermal cylindromas, exhibit histological features of eccrine or apocrine sweat glands and occur most commonly in the scalp area. Genetic linkage analysis of two families yielded a maximum two point LOD score of 3.2 at D9S169. Critical recombinants place the gene between D9S161 and IFN, a distance of approximately 9 cM. This region of chromosome 9 harbors a gene that encodes a 16 kD protein which is an inhibitor of cyclin dependent kinase 4 (CDK-4) and which is somatically mutated in many classes of cancer. However, the observation of recombinants between the disease and a polymorphic microsatellite repeat CT29 close to this gene, suggests that the CDK-4 inhibitor gene is unlikely to be responsible for cylindromatosis.

Authors:
; ;  [1]
  1. Inst. of Cancer Research, Sutton (United Kingdom); and others
Publication Date:
OSTI Identifier:
134145
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-0881
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; NEOPLASMS; SKIN DISEASES; HUMAN CHROMOSOME 9; GENETIC MAPPING; GENES; GENE RECOMBINATION; GENE MUTATIONS; PROTEINS; BIOLOGICAL MARKERS; STATISTICS; DOMINANT MUTATIONS

Citation Formats

Wooster, R, Mangion, J, and Quirk, Y. Localisation of the gene for cylindromatosis (turban tumor syndrome) to chromosome 9p12-13. United States: N. p., 1994. Web.
Wooster, R, Mangion, J, & Quirk, Y. Localisation of the gene for cylindromatosis (turban tumor syndrome) to chromosome 9p12-13. United States.
Wooster, R, Mangion, J, and Quirk, Y. 1994. "Localisation of the gene for cylindromatosis (turban tumor syndrome) to chromosome 9p12-13". United States.
@article{osti_134145,
title = {Localisation of the gene for cylindromatosis (turban tumor syndrome) to chromosome 9p12-13},
author = {Wooster, R and Mangion, J and Quirk, Y},
abstractNote = {Cylindromatosis (multiple cylindromas, tomato syndrome syndrome, turban tumor syndrome) is a rare autosomal dominant disease characterized by the development of multiple, slow growing neoplasms of the skin appendages. The tumors, known as dermal cylindromas, exhibit histological features of eccrine or apocrine sweat glands and occur most commonly in the scalp area. Genetic linkage analysis of two families yielded a maximum two point LOD score of 3.2 at D9S169. Critical recombinants place the gene between D9S161 and IFN, a distance of approximately 9 cM. This region of chromosome 9 harbors a gene that encodes a 16 kD protein which is an inhibitor of cyclin dependent kinase 4 (CDK-4) and which is somatically mutated in many classes of cancer. However, the observation of recombinants between the disease and a polymorphic microsatellite repeat CT29 close to this gene, suggests that the CDK-4 inhibitor gene is unlikely to be responsible for cylindromatosis.},
doi = {},
url = {https://www.osti.gov/biblio/134145}, journal = {American Journal of Human Genetics},
number = Suppl.3,
volume = 55,
place = {United States},
year = {Thu Sep 01 00:00:00 EDT 1994},
month = {Thu Sep 01 00:00:00 EDT 1994}
}