| Literature DB >> 15081106 |
Laura Crisponi1, Manuela Uda, Manila Deiana, Angela Loi, Ramaiah Nagaraja, Francesca Chiappe, David Schlessinger, Antonio Cao, Giuseppe Pilia.
Abstract
A translocation breakpoint 171 kb 5' of the transcription start of FOXL2 causes blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) and associated premature ovarian failure. The breakpoint falls within another gene, MRPS22, that has been sequenced in 500 kb of continuous DNA. MRPS22 encodes 20 exons and a number of alternative transcripts. Three CpG islands (>91% identical) are followed by noncoding exons 4-12 and coding exons 13-20. The 3'UTR extends into the 3'UTR of COPB2. Based on the sequence, three reported translocations that cause BPES all fall within intron 6 of MRPS22. Comparisons reveal conserved segments in introns 6, 11, and 12 of human and mouse. Notably intron 11 sequence is also deleted in goat PIS syndrome (which combines craniofacial defects, female infertility, and XX sex reversal). The conserved sequences are candidates for models in which they are distant enhancers or otherwise affect higher order chromatin structure to impose long-range cis regulation of FOXL2 expression.Entities:
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Year: 2004 PMID： 15081106 DOI： 10.1016/j.ygeno.2003.11.010
Source DB: PubMed Journal: Genomics ISSN： 0888-7543 Impact factor: 5.736