The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2

Journal Article · Sun Jan 01 04:00:00 EST 1995 · American Journal of Human Genetics

OSTI ID:70380

Chen, K S; Gunaratne, P H; Greenberg, F; Shaffer, L G; Lupski, J R ^[1]; Hoheisel, J D ^[2]; Young, I G; Miklos, G L.G.; Campbell, H D ^[3]

---

1. Baylor College of Medicine, Houston, TX (United States)
2. German Cancer Research Center, Heidelberg (Germany)
3. Australian National Univ., Canberra (Australia)

The Smith-Magenis syndrome (SMS) appears to be a contiguous-gene-deletion syndrome associated with a proximal deletion of the short arm of chromosome 17 in band p11.2. The spectrum of clinical findings includes short stature, brachydactyly, developmental delay, dysmorphic features, sleep disturbances, and behavioral problems. The complex phenotypic features suggest deletion of several contiguous genes. However, to date, no protein-encoding gene has been mapped to the SMS critical region. Recently, the Drosophila melanogaster flightless-I gene, fliI, and the homologous human cDNA have been isolated. Mutations in fliI result in loss of flight ability and, when severe, cause lethality due to incomplete cellularization with subsequent abnormal gastrulation. Here, we demonstrate that the human homologue (FLI) maps within the SMS critical region. Genomic cosmids were used as probes for FISH, which localized this gene to the 17p11.2 region. Somatic-cell hybrid-panel mapping further localized this gene to the SMS critical region. Southern blot analysis of somatic-cell hybrids and/or FISH analysis of lymphoblastoid cell lines from 12 SMS patients demonstrates the deletion of one copy of FLI in all SMS patients analyzed. 47 refs., 4 figs., 1 tab.

• OSTI ID: 70380
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 1 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DNA HYBRIDIZATION
DROSOPHILA
FLUORESCENCE
GENE MUTATIONS
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 17
MENTAL DISORDERS
PATIENTS
PHENOTYPE