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Recurrent rearrangements of human amylase genes create multiple independent CNV series

Shwan, Nzar A.A.; Louzada, Sandra; Yang, Fengtang; Armour, John A.L.

Recurrent rearrangements of human amylase genes create multiple independent CNV series Thumbnail


Nzar A.A. Shwan

Sandra Louzada

Fengtang Yang

John A.L. Armour


The human amylase gene cluster includes the human salivary (AMY1) and pancreatic amylase genes (AMY2A and AMY2B), and is a highly variable and dynamic region of the genome. Copy number variation (CNV) of AMY1 has been implicated in human dietary adaptation, and in population association with obesity, but neither of these findings has been independently replicated. Despite these functional implications, the structural genomic basis of CNV has only been defined in detail very recently. In this work, we use high-resolution analysis of copy number, and analysis of segregation in trios, to define new, independent allelic series of amylase CNVs in sub-Saharan Africans, including a series of higher-order expansions of a unit consisting of one copy each of AMY1, AMY2A, and AMY2B. We use fiber-FISH (fluorescence in situ hybridization) to define unexpected complexity in the accompanying rearrangements. These findings demonstrate recurrent involvement of the amylase gene region in genomic instability, involving at least five independent rearrangements of the pancreatic amylase genes (AMY2A and AMY2B). Structural features shared by fundamentally distinct lineages strongly suggest that the common ancestral state for the human amylase cluster contained more than one, and probably three, copies of AMY1.

Journal Article Type Article
Acceptance Date Jan 16, 2017
Online Publication Date Feb 3, 2017
Publication Date May 1, 2017
Deposit Date Feb 28, 2017
Publicly Available Date Feb 28, 2017
Journal Human Mutation
Print ISSN 1059-7794
Electronic ISSN 1098-1004
Publisher Wiley
Peer Reviewed Peer Reviewed
Volume 38
Issue 5
Pages 532-539
Keywords genomic mutation; adaptation; genomic instability; CNV
Public URL
Publisher URL
Additional Information This is the peer reviewed version of the following article: Shwan, N. A.A., Louzada, S., Yang, F. and Armour, J. A.L. (2017), Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV Series. Human Mutation, which has been published in final form at This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.


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