Reactome | Transcription of NOTCH2NLC gene

Transcription of NOTCH2NLC gene

Stable Identifier

R-HSA-9911232

Type

Reaction [omitted]

Species

Homo sapiens

Compartment

extracellular region, nucleoplasm

ReviewStatus

5/5

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Human-specific NOTCH2NLC gene, similar to NOTCH2NLA and NOTCH2NLB genes, localizes to the chromosomal band 1q21.1 and originates from the partial duplication of the NOTCH2 gene, which localizes to the chromosomal band 1p12 (Fiddes et al. 2018) or from duplication of the NOTCH2NLR gene (Fiddes et al. 2019). Fiddes et al. 2018 and Suzuki et al. 2018 reported that the duplicated segment of the NOTCH2 gene in NOTCH2NLA, NOTCH2NLB, NOTCH2NLC, and NOTCH2NLR includes the promoter region of NOTCH2 and exons 1-4 of NOTCH2 that encode EGF repeats 1-6. The duplicated segment does not include the NOTCH2 gene regions that encode the transmembrane and cytoplasmic domains (Fiddes et al. 2018). NOTCH2 introns 1-4 are also included in the duplicated segment (Suzuki et al. 2018). The fifth exon of NOTCH2NLA, NOTCH2NLB, NOTCH2NLC, and NOTCH2NLR is derived from the NOTCH2 intronic sequence (intron 4 of NOTCH2) and encodes a C-terminus of ~20 amino acids unique to NOTCH2NL proteins (Fiddes et al. 2018, Suzuki et al. 2018). Several polymorphic alleles (paratypes) of NOTCH2NLA, NOTCH2NLB and NOTCH2NLC genes exist in humans that mainly differ in their start and stop codons, thus producing polymorphic protein isoforms of different lengths (Fiddes et al. 2018). Occasionally, a protein product of an identical sequence can be produced by paratypes of two different NOTCH2NL genes (Fiddes et al. 2018). While all NOTCH2NL paratypes are transcribed, paratypes containing premature stop codons may not be translated (Fiddes et al. 2018). In addition to the specific combination of NOTCH2NL paratypes (called NOTCH2NL haplotype), individuals can also differ by the total copy number of NOTCH2NL genes, due to variability in the number of the copies of NOTCH2NLC (Fiddes et al. 2018).

NOTCH2NLC is thought to be secreted similar to NOCH2NLA and NOTCH2NLB (Fiddes et al. 2018).

During human embryonic corticogenesis, NOTCH2NLC mRNA is expressed at very low levels compared to NOTCH2NLB and NOTCH2NLA (Suzuki et al. 2018).

Literature References

PubMed ID	Title	Journal	Year
29856954	Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis Fiddes, IT, Lodewijk, GA, Mooring, M, Bosworth, CM, Ewing, AD, Mantalas, GL, Novak, AM, van den Bout, A, Bishara, A, Rosenkrantz, JL, Lorig-Roach, R, Field, AR, Haeussler, M, Russo, L, Bhaduri, A, Nowakowski, TJ, Pollen, AA, Dougherty, ML, Nuttle, X, Addor, MC, Zwolinski, S, Katzman, S, Kriegstein, A, Eichler, EE, Salama, SR, Jacobs, FMJ, Haussler, D	Cell	2018
29856955	Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation Suzuki, IK, Gacquer, D, Van Heurck, R, Kumar, D, Wojno, M, Bilheu, A, Herpoel, A, Lambert, N, Cheron, J, Polleux, F, Detours, V, Vanderhaeghen, P	Cell	2018