title: Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas.
abstract: To identify somatic mutations in pediatric diffuse intrinsic pontine glioma (DIPG), we performed whole-genome sequencing of DNA from seven DIPGs and matched germline tissue and targeted sequencing of an additional 43 DIPGs and 36 non-brainstem pediatric glioblastomas (non-BS-PGs). We found that 78% of DIPGs and 22% of non-BS-PGs contained a mutation in H3F3A, encoding histone H3.3, or in the related HIST1H3B, encoding histone H3.1, that caused a p.Lys27Met amino acid substitution in each protein. An additional 14% of non-BS-PGs had somatic mutations in H3F3A causing a p.Gly34Arg alteration.
authors.affiliation: Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
authors.forename: Gang
authors.initials: G
authors.lastname: Wu
authors.forename: Alberto
authors.initials: A
authors.lastname: Broniscer
authors.forename: Troy A
authors.initials: TA
authors.lastname: McEachron
authors.forename: Charles
authors.initials: C
authors.lastname: Lu
authors.forename: Barbara S
authors.initials: BS
authors.lastname: Paugh
authors.forename: Jared
authors.initials: J
authors.lastname: Becksfort
authors.forename: Chunxu
authors.initials: C
authors.lastname: Qu
authors.forename: Li
authors.initials: L
authors.lastname: Ding
authors.forename: Robert
authors.initials: R
authors.lastname: Huether
authors.forename: Matthew
authors.initials: M
authors.lastname: Parker
authors.forename: Junyuan
authors.initials: J
authors.lastname: Zhang
authors.forename: Amar
authors.initials: A
authors.lastname: Gajjar
authors.forename: Michael A
authors.initials: MA
authors.lastname: Dyer
authors.forename: Charles G
authors.initials: CG
authors.lastname: Mullighan
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Gilbertson
authors.forename: Elaine R
authors.initials: ER
authors.lastname: Mardis
authors.forename: Richard K
authors.initials: RK
authors.lastname: Wilson
authors.forename: James R
authors.initials: JR
authors.lastname: Downing
authors.forename: David W
authors.initials: DW
authors.lastname: Ellison
authors.forename: Jinghui
authors.initials: J
authors.lastname: Zhang
authors.forename: Suzanne J
authors.initials: SJ
authors.lastname: Baker
mesh_terms: D001483:Base Sequence; D020295:Brain Stem Neoplasms / Q000235:genetics* / Q000473:pathology; D015894:Genome, Human / Q000235:genetics; D005909:Glioblastoma / Q000235:genetics*; D006657:Histones / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D011149:Pons / Q000473:pathology*; D017422:Sequence Analysis, DNA
chemical_list: D006657:Histones