Gene structure and allelic expression assay of the human GLI3 gene

Seong Man Kang, Marjorie Rosenberg, Victor D. Ko, Leslie G. Biesecker

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

The GLI3 gene encodes a putative zinc finger transcription factor that is important in early vertebrate development. Haploinsufficiency of this gene has been associated with the Greig cephalopolysyndactyly syndrome and truncation mutations cause Pallister-Hall syndrome. In the course of studies to determine the etiology of Pallister-Hall syndrome, we required knowledge of the fine structure of GLI3 to perform detailed genetic and physical mapping and mutation screening of this gene. The coding region of GLI3 is composed of 14 exons, including a large exon of more than 2500 bp. In addition, the gene contains two intragenic dinucleotide repeats, and four single-base pair polymorphisms in the coding region. We have used these coding region polymorphisms to design an allele-specific expression study that will be useful for studying patients with Greig cephalopolysyndactyly syndrome. In addition, GLI3 should be considered a candidate gene for related developmental anomalies of humans. Such hypotheses will be more readily addressed with the availability of the fine structure of the gene and the allele-expression assay.

Original languageEnglish
Pages (from-to)154-157
Number of pages4
JournalHuman Genetics
Volume101
Issue number2
DOIs
Publication statusPublished - 1997 Dec 1

Fingerprint

Pallister-Hall Syndrome
Genes
Exons
Physical Chromosome Mapping
Alleles
Dinucleotide Repeats
Developmental Genes
Haploinsufficiency
Mutation
Zinc Fingers
Base Pairing
Vertebrates
Transcription Factors
Gene Expression
Greig cephalopolysyndactyly syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Gene structure and allelic expression assay of the human GLI3 gene. / Kang, Seong Man; Rosenberg, Marjorie; Ko, Victor D.; Biesecker, Leslie G.

In: Human Genetics, Vol. 101, No. 2, 01.12.1997, p. 154-157.

Research output: Contribution to journalArticle

Kang, Seong Man ; Rosenberg, Marjorie ; Ko, Victor D. ; Biesecker, Leslie G. / Gene structure and allelic expression assay of the human GLI3 gene. In: Human Genetics. 1997 ; Vol. 101, No. 2. pp. 154-157.
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