The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2

Journal Article · Mon Mar 31 04:00:00 EST 1997 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19970331)69:3<320::AID-AJMG19>3.3.CO;2-L· OSTI ID:526007

Kimura, Toshiyuki; Arakawa, Yoshiki; Inazawa, Johji ^[1]

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1. Kyoto Prefectural Univ. of Medicine, Kyoto (Japan); and others

Smith-Magenis syndrome (SAIS) is caused by a microdeletion of 17p11.2 and comprises developmental and growth delay, facial abnormalities, unusual behavior and sleep problems. This phenotype may be due to haploinsufficiency of several contiguous genes. The human brain finger protein gene (ZNF179), a member of the RING finger protein family, has been isolated and mapped to l7p11.2. FISH analyses of metaphase or interphase chromosomes of 6 patients with SMS show that ZNF179 was deleted in one of the 2 homologs (17p11.2), indicating a possible association of the defect of this gene with the pathogenesis of SMS. Furthermore, using a prophase FISH ordering system, we sublocalized ZNF179 proximally to LLGL which lies on the critical region for SMS. 27 refs., 2 figs.

• OSTI ID: 526007
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 69; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BEHAVIOR
CHROMATIDS
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DNA-CLONING
FLUORESCENCE
GENE MUTATIONS
GENES
GENETIC MAPPING
GROWTH
HEREDITARY DISEASES
HUMAN CHROMOSOME 17
IN-SITU HYBRIDIZATION
MENTAL DISORDERS
PATHOGENESIS
PATIENTS
PHENOTYPE
PROTEINS