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Article

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

PLoS genetics - 1 Dec 2015

Yuan Bo, Liu Pengfei, Gupta Aditya, Beck Christine R, Tejomurtula Anusha, Campbell Ian M, Gambin Tomasz, Simmons Alexandra D, Withers Marjorie A, Harris R Alan, Rogers Jeffrey, Schwartz David C, Lupski James R

Abstract excerpt

Many loci in the human genome harbor complex genomic structures that can result in susceptibility to genomic rearrangements leading to various genomic disorders. Nephronophthisis 1 (NPHP1, MIM# 256100) is an autosomal recessive disorder that can be caused by defects of NPHP1; the gene maps within the human 2q13 region where low copy repeats (LCRs) are abundant. Loss of function of NPHP1 is responsible for...

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Identifiers

PMID: 26641089
DOI: 10.1371/journal.pgen.1005686
PMCID: PMC4671654

Genes

NPHP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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