Transcriptional map of the Treacher Collins candidate gene region. | Zendy

Stacie K. Loftus | Zendy; Jill Dixon | Zendy; K Koprivnikar | Zendy; M. J. Dixon | Zendy; John J. Wasmuth | Zendy

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Transcriptional map of the Treacher Collins candidate gene region.

Author(s) -

Stacie K. Loftus,

Jill Dixon,

K Koprivnikar,

M. J. Dixon,

John J. Wasmuth

Publication year - 1996

Publication title -

genome research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 9.556

H-Index - 297

eISSN - 1549-5469

pISSN - 1088-9051

DOI - 10.1101/gr.6.1.26

Subject(s) - biology , candidate gene , genetics , gene , treacher collins syndrome , locus (genetics) , exon , gene mapping , craniofacial , gene map , chromosome , exon trapping , alternative splicing

Treacher Collins syndrome (TCOF1) is a dominant disorder of craniofacial development that has been linked previosuly to a region of chromosome 5q31.3-32. Identification of recombination events in affected individuals has reduced the candidate gene region to a 0.5-Mb area between the loci RPS14 (proximal) and ANX6 [distal]. A transcriptional map of this candidate gene region, generated by analysis of exon amplification clones, has identified the genomic location of four genes, heparan sulfate-N-sulfotransferase-N-deacetylase, glutathione peroxidase, as well as two novel, previously uncharacterized genes. Each of these genes, based on their location, must be considered candidates for TCOF1 locus.

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