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Genomic structures for Retinoic Acid Receptor Alpha and BARX2 and their mutational analyses as candidate genes for craniofacial disorders.

Hjalt, Tord LU and Murray, J. C. (1998) American Society of Human Genetics
Abstract
We present here the genomic structures for two genes implicated in craniofacial development. Retinoic acid receptor alpha (RARA), or a gene in its vicinity, has been implicated in non-syndromic cleft lip and palate, based on both association and linkage studies. Using primers directed to the 3' -UTR of the published cDNA sequence, we screened a human genomic BAC library to
obtain a clone containing the RARA gene. Only exons 1-3 had pre­viously been published. Using cDNA-specific primers, we sequenced directly off the BAC DNA, and present here the genomic structure of the 9 exons/8 introns of RARA.
Barx2 is a transcription factor that is co-expressed with Pitx2 in several mouse tissues, including Rathkes pouch, the maxillary and... (More)
We present here the genomic structures for two genes implicated in craniofacial development. Retinoic acid receptor alpha (RARA), or a gene in its vicinity, has been implicated in non-syndromic cleft lip and palate, based on both association and linkage studies. Using primers directed to the 3' -UTR of the published cDNA sequence, we screened a human genomic BAC library to
obtain a clone containing the RARA gene. Only exons 1-3 had pre­viously been published. Using cDNA-specific primers, we sequenced directly off the BAC DNA, and present here the genomic structure of the 9 exons/8 introns of RARA.
Barx2 is a transcription factor that is co-expressed with Pitx2 in several mouse tissues, including Rathkes pouch, the maxillary and mandibular ectoderm, limb mesenchyme, and in the eye. Mutations in PITX2, the human homologue of mouse Pitx2, only account for about 1/3 of the known cases of Rieger
syndrome. We isolated a BAC clone of BARX2, sequenced it with cDNA specific primers, and obtained the genomic structure of its 4 exons/3 introns.
With both of these genes, we are currently performing single-stranded conformation poly­morphism analyses to detect mutations associated with cleft lip and palate (RARA), and ocu­ lar disorders related to Rieger syndrome (Barx2). (Less)
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Contribution to conference
publication status
published
conference name
American Society of Human Genetics
conference location
Denver, CO, United States
conference dates
1998-10-30
language
English
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no
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26b3fc52-5857-4bbf-97ee-f30da0cb15ac
date added to LUP
2025-01-03 08:07:36
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2025-01-07 12:12:57
@misc{26b3fc52-5857-4bbf-97ee-f30da0cb15ac,
  abstract     = {{We present here the genomic structures for two genes implicated in craniofacial development. Retinoic acid receptor alpha (RARA), or a gene in its vicinity, has been implicated in non-syndromic cleft lip and palate, based on both association and linkage studies. Using primers directed to the 3' -UTR of the published cDNA sequence, we screened a human genomic BAC library to <br/>obtain a clone containing the RARA gene. Only exons 1-3 had pre­viously been published. Using  cDNA-specific primers, we sequenced directly off the BAC DNA, and present here the genomic  structure of the 9 exons/8 introns of RARA.<br/>Barx2 is a transcription factor that is co-expressed with Pitx2 in several mouse tissues, including Rathkes pouch, the maxillary and mandibular ectoderm, limb mesenchyme, and in the eye. Mutations in PITX2, the human homologue of mouse Pitx2, only account for about 1/3 of the known cases of Rieger <br/>syndrome. We isolated a BAC clone of BARX2, sequenced it with cDNA specific primers, and obtained the genomic structure of its 4 exons/3 introns.<br/>With both of these genes, we are currently performing single-stranded conformation poly­morphism analyses to detect mutations associated with cleft lip and palate (RARA), and ocu­ lar disorders related to Rieger syndrome (Barx2).}},
  author       = {{Hjalt, Tord and Murray, J. C.}},
  language     = {{eng}},
  title        = {{Genomic structures for Retinoic Acid Receptor Alpha and BARX2 and their mutational analyses as candidate genes for craniofacial disorders.}},
  year         = {{1998}},
}