Local sequence determinants of two in-frame triplet deletion
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Local sequence determinants of two in-frame triplet deletion
Chen et al. Human Genomics 2012, 6:8 http://www.humgenomics.com/content/6/1/8
LETTER TO THE EDITOR
Open Access
Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCE genes Jian-Min Chen1*, David N Cooper2 and Claude Férec1 Different types of human gene mutation can vary in size quite dramatically (e.g., single nucleotide substitutions vs. copy number variations), but what they all have in common is that their occurrence is often closely bound up with specific characteristics of the local DNA sequence environment [1]. Here, we highlight the importance of local sequence features that underlie the two inframe triplet deletion/duplication hotspots in the cislinked, highly homologous RHD and RHCE paralogs. The first hotspot refers to an 8-bp sequence tract in exon 1 of the RHD and RHCE genes, in which three different variants were reported (Figure 1a) [2-4]. The first variant is a deletion of one of two juxtaposed CTC triplets in the RHD gene, which gives rise to an in-frame deletion of a single amino acid, Leu27 [2]. The second variant is identical to the first but occurred at the analogous location in the RHCE gene [3]. Henceforth, we shall employ the term ‘deduplication’ [5], which emphasizes the identity of the deleted sequence and the sequence immediately abutting the site of the deletion, to describe this particular type of microdeletion (
