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Comparative analysis of the intronic regions involved in the genomic rearrangement

We perform a comparative study of a region of intron 11 of the dmd gene involved in the determination of the pathological phenotype in one XLDC patient. The region covers about 10kb located in the central part of intron 11 and contains a repetitive element of the LINE 1 family (L1PMA2).

To estimate the approximate age of the L1PMA2 element insertion into the dystrophin intron 11 the orthologous genomic region was examined in selected species belonging to all major taxonomic groups of Primates (Gorilla and Orango from APES, Macaco from Old World Monkey, Marmoset from New World Monkey and Lemur from Prosimians).

A L1PMA2 copy, located in the same position as in the human genome was found in all the species tested but lemur. From the latter species the partial sequence of the othologous genomic region revealed the lack of the L1PMA2 copy and a high similarity (80%) to the regions of human dystrophin intron 11 flanking the insertion site of the element.

A PCR survey aimed at investigating the evolutionary pattern of the L1PMA2 element in the genomes of primates was also carried out. This was done by randomly amplifying part of the L1P_MA2 5’ tail (Tail700) sequences in the same primate species reported above by using a primer pair designed on the L1PMA2 human consensus. We then cloned the PCR product and sequenced several clones.

These sequences were used as a query to sort their human orthologues out from EMBL database. The complete alignment of all these sequences was used to reconstruct the relationships among human and other primate L1P_MA2 copies.

- Cardazzo B, Bargelloni L, Toffolatti L, Rimessi P, Ferlini A, Patarnello T.
«Tempo and mode of evolution of a primate specific retrotransposon belonging to the LINE 1 family.» (2003) J. Mol. Evol. 57 Suppl. 1: S268-S276.

- B. Cardazzo, L. Bargelloni, L. Toffolatti, T. Patarnello. «Intervening sequences in paralogous genes: a comparative genomic approach to study the evolution of X chromosome introns.» (2003) Mol. Bio. Evol. 20(12): 2034-2041.

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University of Padova
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