Reactome | Transcription of NOTCH2NLR gene

Transcription of NOTCH2NLR gene

Stable Identifier

R-HSA-9911234

Type

Reaction [uncertain]

Species

Homo sapiens

Compartment

nucleoplasm, cytosol

ReviewStatus

5/5

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Human-specific NOTCH2NLR gene which, similar to NOTCH2NLA, NOTCH2NLB, and NOTCHLC genes, originates from the partial duplication of the NOTCH2 gene, localizes to the chromosomal band 1p12, in the vicinity of the NOTCH2 gene (Fiddes et al. 2018). 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). In NOTCH2NLA, NOTCH2NLB, and NOTCH2NLC, but not in NOTCH2NLR, the fifth exon contains a 4 bp deletion compared to the original ancestral NOTCH2 intronic sequence (Fiddes et al. 2018). The presence of the ancestral 4 bp sequence changes the putative C-terminal sequence of NOTCH2NLR protein compared with other NOTCH2NL proteins and, based on in vitro studies, negatively affects protein expression (Fiddes et al. 2018). It is uncertain whether NOTCH2NLR transcripts are translated or whether NOTCH2NLR is a non-functional pseudogene (Fiddes et al. 2018). Therefore, only expression of NOTCH2NLR mRNA is shown.

During human embryonic corticogenesis, NOTCH2NLR mRNA is expressed at the lowest level in comparison with the other three NOTCH2NLs (NOTCH2NLB > NOTCH2NLA >> NOTCH2NLC > NOTCH2NLR) (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