Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22

Ignatia B. Van Den Veyver, Trena A. Cormier, Vesna Jurecic, Antonio Baldini, Huda Y. Zoghbi

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Microphthalmia with linear skin defects (MLS) is an X-linked dominant male-lethal syndrome caused by different deletions of chromosome Xp22. Through the screening of cDNA libraries with the cross-species conserved marker 61B3-R (DXS1141), we identified a new gene at the telomeric breakpoint of the MLS critical region, which encodes a transcript containing a RING finger domain. This novel gene was independently cloned by another group and found to be mutated in Opitz syndrome. In this study we characterized the expression pattern of this gene, identified various splice variants, delineated its exon-intron boundaries, and determined that it is not mutated in either Aicardi or Goltz syndrome, two X-linked dominant conditions with phenotypes that overlap with that of MLS syndrome. This novel RING finger gene is expressed throughout mouse embryonic development, with the highest levels of expression in E7-E11. FISH and hybridization to mouse YACs confirmed human and mouse synteny in the order of this gene and other genes in the MLS critical region; however, this gene spans the boundary of the pseudoautosomal region in mouse but not in humans.

Original languageEnglish
Pages (from-to)251-261
Number of pages11
JournalGenomics
Volume51
Issue number2
DOIs
Publication statusPublished - Jul 15 1998

Fingerprint

Genes
Focal Dermal Hypoplasia
Aicardi Syndrome
RING Finger Domains
Synteny
Chromosome Deletion
Gene Order
Gene Library
Introns
Embryonic Development
Exons
Phenotype
Gene Expression
X-Linked Opitz GBBB Syndrome
Syndromic 7 Microphthalmia
Pseudoautosomal Regions

ASJC Scopus subject areas

  • Genetics

Cite this

Van Den Veyver, I. B., Cormier, T. A., Jurecic, V., Baldini, A., & Zoghbi, H. Y. (1998). Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics, 51(2), 251-261. https://doi.org/10.1006/geno.1998.5350

Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. / Van Den Veyver, Ignatia B.; Cormier, Trena A.; Jurecic, Vesna; Baldini, Antonio; Zoghbi, Huda Y.

In: Genomics, Vol. 51, No. 2, 15.07.1998, p. 251-261.

Research output: Contribution to journalArticle

Van Den Veyver, IB, Cormier, TA, Jurecic, V, Baldini, A & Zoghbi, HY 1998, 'Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22', Genomics, vol. 51, no. 2, pp. 251-261. https://doi.org/10.1006/geno.1998.5350
Van Den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY. Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 1998 Jul 15;51(2):251-261. https://doi.org/10.1006/geno.1998.5350
Van Den Veyver, Ignatia B. ; Cormier, Trena A. ; Jurecic, Vesna ; Baldini, Antonio ; Zoghbi, Huda Y. / Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. In: Genomics. 1998 ; Vol. 51, No. 2. pp. 251-261.
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