The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-10

AUTHORS

Ramesh Reddy, Ngoc M P Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra C G Rivas, Aysenur Kavasoglu, Hakan Berkil, Alaa Elshafey, Ebtesam Abdalla, Kristin P Nunez, Hélène Dreyfus, Merviel Philippe, Zahra Hadipour, Asude Durmaz, Erin E Eaton, Brittany Schubert, Volkan Ulker, Fatemeh Hadipour, Fatemeh Ahmadpour, Isabelle Touitou, Majid Fardaei, Rima Slim

ABSTRACT

NLRP7 is a major gene responsible for recurrent hydatidiform moles. Here, we report 11 novel NLRP7 protein truncating variants, of which five deletions of more than 1-kb. We analyzed the transcriptional consequences of four variants. We demonstrate that one large homozygous deletion removes NLRP7 transcription start site and results in the complete absence of its transcripts in a patient in good health besides her reproductive problem. This observation strengthens existing data on the requirement of NLRP7 only for female reproduction. We show that two other variants affecting the splice acceptor of exon 6 lead to its in-frame skipping while another variant affecting the splice donor site of exon 9 leads to an in-frame insertion of 54 amino acids. Our characterization of the deletion breakpoints demonstrated that most of the breakpoints occurred within Alu repeats and the deletions were most likely mediated by microhomology events. Our data define a hotspot of Alu instability and deletions in intron 5 with six different breakpoints and rearrangements. Analysis of NLRP7 genomic sequences for repetitive elements demonstrated that Alu repeats represent 48% of its intronic sequences and these repeats seem to have been inserted into the common NLRP2/7 primate ancestor before its duplication into two genes. More... »

PAGES

1445-1452

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2016.9

DOI

http://dx.doi.org/10.1038/ejhg.2016.9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007380466

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26956250


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