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Article

Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B.

American journal of human genetics - 8 Aug 2024

Plender Elizabeth G, Prodanov Timofey, Hsieh PingHsun, Nizamis Evangelos, Harvey William T, Sulovari Arvis, Munson Katherine M, Kaufman Eli J, O'Neal Wanda K, Valdmanis Paul N, Marschall Tobias, Bloom Jesse D, Eichler Evan E

Abstract excerpt

The secreted mucins MUC5AC and MUC5B are large glycoproteins that play critical defensive roles in pathogen entrapment and mucociliary clearance. Their respective genes contain polymorphic and degenerate protein-coding variable number tandem repeats (VNTRs) that make the loci difficult to investigate with short reads. We characterize the structural diversity of MUC5AC and MUC5B by long-read sequencing and...

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Identifiers

PMID: 38991590
DOI: 10.1016/j.ajhg.2024.06.007
PMCID: PMC11344006

Genes

MUC5AC
MUC5B

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