Genomic organization of the genes GTF2IRD1, GTF2I, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region

Dashzeveg Bayarsaihan, Judit Dunai, John M. Greally, Kazuhiko Kawasaki, Kenta Sumiyama, Badam Enkhmandakh, Nobuyoshi Shimizu, Frank H. Ruddle

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

We have recently isolated a mouse ortholog of human GTF2IRD1 that is related to GTF2I. GTF2IRD1 and GTF2I proteins are characterized by the presence of multiple helix-loop-helix domains and a leucine zipper motif. Both paralogs are closely linked and deleted hemizygously in individuals with Williams syndrome, a dominant genetic condition characterized by unique neurocognitive and behavioral features. We have isolated and analyzed the sequence of bacterial artificial chromosome clones from the syntenic mouse chromosome 5 region that contains Gtf2ird1 and Gtf2i as well as a neighboring gene, Ncf1. Gtf2ird1 is composed of 31 exons spanning > 100 kb on mouse chromosome 5 and is located between Cyln2 and Gtf2i. Gtf2i is composed of 34 exons spanning about 77 kb. Ncf1, located downstream of Gtf2i, consists of 11 exons that extend over 8 kb. The gene organization of Gtf2ird1, Gtf2i, and Ncf1 is conserved in mice and humans, although the intronic regions are more compact in the mouse genome. The helix-loop-helix repeats of Gtf2ird1 and Gtf2i are encoded separately on adjacent exons and were generated by independent genomic rearrangements. These studies contribute to our knowledge of transcription factor defects and their pathogenesis in haploinsufficiency conditions.

Original languageEnglish (US)
Pages (from-to)137-143
Number of pages7
JournalGenomics
Volume79
Issue number1
DOIs
StatePublished - 2001
Externally publishedYes

Fingerprint

Williams Syndrome
Chromosomes, Human, Pair 5
Human Chromosomes
Exons
Genes
Helix-Loop-Helix Motifs
Bacterial Artificial Chromosomes
Haploinsufficiency
Dominant Genes
Leucine Zippers
Transcription Factors
Clone Cells
Genome
Proteins

Keywords

  • Genome
  • Paralog
  • TFII-I
  • Williams syndrome

ASJC Scopus subject areas

  • Genetics

Cite this

Genomic organization of the genes GTF2IRD1, GTF2I, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region. / Bayarsaihan, Dashzeveg; Dunai, Judit; Greally, John M.; Kawasaki, Kazuhiko; Sumiyama, Kenta; Enkhmandakh, Badam; Shimizu, Nobuyoshi; Ruddle, Frank H.

In: Genomics, Vol. 79, No. 1, 2001, p. 137-143.

Research output: Contribution to journalArticle

Bayarsaihan, Dashzeveg ; Dunai, Judit ; Greally, John M. ; Kawasaki, Kazuhiko ; Sumiyama, Kenta ; Enkhmandakh, Badam ; Shimizu, Nobuyoshi ; Ruddle, Frank H. / Genomic organization of the genes GTF2IRD1, GTF2I, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region. In: Genomics. 2001 ; Vol. 79, No. 1. pp. 137-143.
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