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

K. S. Chen, P. H. Gunaratne, J. D. Hoheisel, I. G. Young, G. L.G. Miklos, F. Greenberg, L. G. Shaffer, H. D. Campbell, J. R. Lupski

Research output: Contribution to journalArticle

62 Citations (Scopus)

Abstract

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-en-coding 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.

Original languageEnglish (US)
Pages (from-to)175-182
Number of pages8
JournalAmerican journal of human genetics
Volume56
Issue number1
StatePublished - Jan 1 1995

Fingerprint

Smith-Magenis Syndrome
Drosophila melanogaster
Genes
Hybrid Cells
Brachydactyly
Cosmids
Gastrulation
Chromosomes, Human, Pair 17
Aptitude
Gene Deletion
Southern Blotting
Sleep
Complementary DNA
Cell Line
Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2. / Chen, K. S.; Gunaratne, P. H.; Hoheisel, J. D.; Young, I. G.; Miklos, G. L.G.; Greenberg, F.; Shaffer, L. G.; Campbell, H. D.; Lupski, J. R.

In: American journal of human genetics, Vol. 56, No. 1, 01.01.1995, p. 175-182.

Research output: Contribution to journalArticle

Chen, KS, Gunaratne, PH, Hoheisel, JD, Young, IG, Miklos, GLG, Greenberg, F, Shaffer, LG, Campbell, HD & Lupski, JR 1995, 'The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2', American journal of human genetics, vol. 56, no. 1, pp. 175-182.
Chen, K. S. ; Gunaratne, P. H. ; Hoheisel, J. D. ; Young, I. G. ; Miklos, G. L.G. ; Greenberg, F. ; Shaffer, L. G. ; Campbell, H. D. ; Lupski, J. R. / The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2. In: American journal of human genetics. 1995 ; Vol. 56, No. 1. pp. 175-182.
@article{e82613a9f53048f5b3ee2d90e5ba3854,
title = "The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2",
abstract = "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-en-coding 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.",
author = "Chen, {K. S.} and Gunaratne, {P. H.} and Hoheisel, {J. D.} and Young, {I. G.} and Miklos, {G. L.G.} and F. Greenberg and Shaffer, {L. G.} and Campbell, {H. D.} and Lupski, {J. R.}",
year = "1995",
month = "1",
day = "1",
language = "English (US)",
volume = "56",
pages = "175--182",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",

}

TY - JOUR

T1 - The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2

AU - Chen, K. S.

AU - Gunaratne, P. H.

AU - Hoheisel, J. D.

AU - Young, I. G.

AU - Miklos, G. L.G.

AU - Greenberg, F.

AU - Shaffer, L. G.

AU - Campbell, H. D.

AU - Lupski, J. R.

PY - 1995/1/1

Y1 - 1995/1/1

N2 - 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-en-coding 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.

AB - 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-en-coding 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.

UR - http://www.scopus.com/inward/record.url?scp=0028815790&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028815790&partnerID=8YFLogxK

M3 - Article

C2 - 7825574

AN - SCOPUS:0028815790

VL - 56

SP - 175

EP - 182

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -