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CNE-3

Chr X, YAR

CNE-3 enhancer upstream of SHOX

NCBI Gene: 108353831 OMIM: 611290

CNE-3 is a conserved genomic enhancer element located in the pseudoautosomal region that regulates SHOX gene expression through chromatin looping interactions. Mutations including deletions and duplications of this regulatory region cause Leri-Weill dyschondrosteosis and idiopathic short stature, with additional associations reported in autism spectrum disorders and neurodevelopmental conditions. The inheritance pattern varies depending on the specific mutation and associated phenotype.

OMIM ResearchSummary from RefSeq, OMIM

This genomic region is found within the pseudoautosomal region 1 (PAR1) of chromosomes X and Y, where each chromosome contains the same DNA region. It is located approximately 124 kb upstream of the SHOX (short stature homeobox) gene, and is one of several conserved elements that surround that gene. A subregion can function as an enhancer of SHOX gene expression in human U2OS osteosarcoma cells, and forms looping interactions with the SHOX promoter in 4C-seq assays. An overlapping subregion was also validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. Mutations that include this genomic region, including deletions and microduplications, are associated with Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS), and they have also been implicated in autism spectrum disorders (ASDs) and related neurodevelopmental conditions. [provided by RefSeq, Oct 2022]

OMIM ResearchGenerating clinical summary…