Localization of a human homolog of the mouse pericentrin gene ( PCNT) to chromosome 21qter.
Exon trapping was used to identify portions of genes from cosmid DNA of a human chromosome 21-specific library LL21NC02-Q. More than 650 potential exons have been cloned and characterized to date. Among these, 3 trapped "exons" showed strong homology to different regions of the cDNA for the mouse pericentrin ( Pcnt) gene (Doxsey et al., Cell 76: 639-650, 1994), indicating that these 3 exons are portions of a human homolog of the mouse pericentrin gene. With PCR amplification, Southern blot analysis, and FISH, we have mapped this presumed human pericentrin gene ( PCNT) to the long arm of chromosome 21 between marker PFKL and 21qter. Pericentrin is a conserved protein component of the filamentous matrix of the centrosome involved in the initial establishment of the organized microtubule array. No candidate hereditary disorder for pericentrin deficiency/abnormality has yet been mapped in the most distal region of 21q; in addition the role of triplication of the pericentrin gene in the pathophysiology or etiology of trisomy 21 is currently unknown.[1]References
- Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter. Chen, H., Gos, A., Morris, M.A., Antonarakis, S.E. Genomics (1996) [Pubmed]
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