Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe.
We describe here the cloning of the human BAPX1 gene, a homologue of the Drosophila bagpipe gene which has 87% aa identity within the homeodomain relative to the fly gene. We recently have identified the murine bagpipe homolog. The predicted aa sequence of the human gene has 85% overall identity to the murine gene, with 100% identity in the homeodomain. In mouse, this gene maps to the proximal portion of chromosome 5. We show that the human gene maps to 4p16.1, the human region syntenic with mouse chromosome 5. Expression of BAPX1 was evaluated during human embryonic development by RT-PCR analysis and by RNA in situ hybridization. RT-PCR analysis showed that BAPX1 is expressed in embryo tissues, particularly the limb, and at a lower level in an embryonic lung cell line. RNA in situ hybridization revealed that BAPX1 is predominantly expressed in mesenchymal condensations of the fetal limb and axial skeleton, and in lateral plate mesoderm giving rise to visceral muscle. The expression pattern of BAPX1 combined with the chromosomal localization to 4p16.1, where several human genetic diseases involving dysmorphology of the skeleton have been assigned, raises the potential of it being a candidate gene for one of these disorders. O
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Brookdale Center for Developmental and Molecular Biology, Mount Sinai School of Medicine, New York, NY 10029-6574, USA.
Lufkin
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D000818:Animals; D015139:Blotting, Southern; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003001:Cloning, Molecular; D018899:CpG Islands / Q000235:genetics; D004330:Drosophila / Q000235:genetics; D029721:Drosophila Proteins; D004622:Embryo, Mammalian / Q000378:metabolism*; D004625:Embryo, Nonmammalian; D005314:Embryonic and Fetal Development; D005091:Exons / Q000235:genetics; D018507:Gene Expression Regulation, Developmental; D018398:Homeodomain Proteins / Q000032:analysis / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D019476:Insect Proteins / Q000737:chemistry / Q000235:genetics; D007438:Introns / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors
D029721:Drosophila Proteins; D018398:Homeodomain Proteins; D019476:Insect Proteins; C491536:NKX3-2 protein, human; C107965:Nkx3-2 protein, mouse; D012333:RNA, Messenger; D014157:Transcription Factors; C104163:bagpipe protein, Drosophila