Amplification of Promoter Regions

Promoter and regulatory regions selected based on the presence of predicted elements by UCSC browser (Tracks: Integrated Regulation from ENCODE → Layered H3K4Me1; ENCODE Histone Modification → Broad ChromHMM) [32 (link)], were amplified using the AmpliTaq Gold DNA Polymerase Kit (Thermo Fisher Scientific) or, in the case of CG-rich regions, the KAPA2G Robust PCR Kit (KAPA BIOSYSTEMS). A full list of primers pairs, and detailed conditions are reported in Supplementary Table S3.

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Sironi A., Bestetti I., Masciadri M., Tumiatti F., Crippa M., Pantaleoni C., Russo S., D’Arrigo S., Milani D., Larizza L, & Finelli P. (2022). A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele. European Journal of Human Genetics, 30(11), 1233-1238.

Publication 2022

AmpliTaq Gold DNA Polymerase Kit KAPA2G Robust PCR Kit

Dna polymerase Gold Histone Primers Regulatory regions

Corresponding Organization : Istituti di Ricovero e Cura a Carattere Scientifico

Other organizations : Fondazione IRCCS Istituto Neurologico Carlo Besta, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

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Variable analysis

independent variables

Presence of predicted elements by UCSC browser (Tracks: Integrated Regulation from ENCODE → Layered H3K4Me1; ENCODE Histone Modification → Broad ChromHMM)

dependent variables

Promoter and regulatory regions were amplified

control variables

Use of AmpliTaq Gold DNA Polymerase Kit (Thermo Fisher Scientific) or KAPA2G Robust PCR Kit (KAPA BIOSYSTEMS) for amplification

controls

No positive or negative controls were explicitly mentioned in the provided information.

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