Genetic diversity and regulatory features of human-specific NOTCH2NL duplications.

doi:10.1016/j.xgen.2026.101194

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Article

Genetic diversity and regulatory features of human-specific NOTCH2NL duplications.

Cell genomics - 10 Jun 2026

Real Taylor D, Hebbar Prajna, Yoo DongAhn, Antonacci Francesca, Pačar Ivana, Dubocanin Danilo, Diekhans Mark, Mikol Gregory J, Popoola Oyeronke G, Mallory Benjamin J, Vollger Mitchell R, Dishuck Philip C, Guitart Xavi, Rozanski Allison N, Munson Katherine M, Hoekzema Kendra, Ranchalis Jane E, Neph Shane J, Sedeño-Cortés Adriana E, Paten Benedict, Salama Sofie R, Stergachis Andrew B, Eichler Evan E

Abstract excerpt

NOTCH2NL (NOTCH2-N-terminus-like) genes arose from ape-specific chromosome 1 segmental duplications implicated in human brain cortical expansion, including an incomplete NOTCH2 gene. Genetic characterization of these loci and their regulation is complicated because they are embedded in large, nearly identical duplications that predispose to recurrent microdeletion syndromes. Using near-complete long-read...

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Identifiers

PMID: 41916274
DOI: 10.1016/j.xgen.2026.101194
PMCID: PMC13261667

Genes

NOTCH2
NOTCH2NLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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