A Human Specific Alu DNA Cassette is Found Flanking the Genes of Transcription Factor AP2

Overview

Journal BMC Res Notes

Publisher Biomed Central

Specialties Biology
General Medicine

Date 2019 Apr 13

PMID 30975199

Citations 2

Authors

Hamdi K Hamdi

Siddana Reddy

Nada Laz

Renad Eltaher

Zahraa Kandell

Teif Mahmud

Lamia Alenazi

Basheer Haroun

Mohanad Hassan

Raju Ragavendra

Affiliations

Soon will be listed here.

Abstract

Objective: Alu elements are retroposons that invaded the primate genome and shaped its biology. Some Alus inserted recently and are polymorphic in the human population. It is these Alus that are being sought after in disease association studies and regulatory biology. Discovering polymorphic Alus in the human genome can open areas of new research in these fields.

Results: Using the polymerase chain reaction on genomic DNA, we identified a polymorphic Alu in the flanking region of the TFAP2B and TFAP2D genes. The new insert was found in higher frequency in Europeans (0.4) and Asians (0.38) and lower frequency in Africans (0.25). We also show this Alu to be part of a 3 Alu cassette that is human specific. The TFAP2B and TFAP2D genes encode members of the transcription factor AP-2, which plays a role in organ development. The insertion of this Alu cassette flanking the transcription factor genes distinguishes humans from the primates. This cassette can possibly affect the regulation of both genes or alternately provoke genomic deletions, which we have shown in this study. Its presence in such a location is intriguing and unquestionably opens an investigational window in disease association studies and in the field of gene regulation.

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