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. 2021 Jun 21:12:684067.
doi: 10.3389/fgene.2021.684067. eCollection 2021.

Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles

Elizabeth G Woo  1 , Nahid Tayebi  1 , Ellen Sidransky  1
Affiliations

Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles

Elizabeth G Woo et al. Front Genet. .
No abstract available

Keywords: GBA1; Gaucher disease; genotyping; glucocerebrosidase; next-generation sequencing; pseudogene.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
(A) Scaled representation of GBA1, MTX1, and their highly homologous pseudogenes. MTXP lies in the 16 kb region between GBA1 and GBAP1. MTX1 and MTXP are transcribed in the direction opposite to that of GBA1 and GBAP1. (B) Example of a reciprocal crossover event, resulting in a (i) gene-pseudogene fusion allele and a (ii) duplicated allele. These recombinant alleles are difficult to detect using next-generation sequencing methods. Sequence reads containing the pseudogene-derived segment (red) of the recombinant alleles may align to the pseudogene instead. This can lead to false negatives and reduce the read depth of GBA1. In this example, reads containing the 55 bp deletion from the recombinant alleles may align preferentially to the pseudogene (Adapted in part from Tayebi et al., 2003).
See this image and copyright information in PMC

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