title: Whole exome sequencing to estimate alloreactivity potential between donors and recipients in stem cell transplantation.
abstract: Whole exome sequencing (WES) was performed on stem cell transplant donor-recipient (D-R) pairs to determine the extent of potential antigenic variation at a molecular level. In a small cohort of D-R pairs, a high frequency of sequence variation was observed between the donor and recipient exomes independent of human leucocyte antigen (HLA) matching. Nonsynonymous, nonconservative single nucleotide polymorphisms were approximately twice as frequent in HLA-matched unrelated, compared with related D-R pairs. When mapped to individual chromosomes, these polymorphic nucleotides were uniformly distributed across the entire exome. In conclusion, WES reveals extensive nucleotide sequence variation in the exomes of HLA-matched donors and recipients.
authors.affiliation: Center for the Study of Biological Complexity, Virginia Commonwealth University, Richmond, VA, USA.
authors.forename: Juliana K
authors.initials: JK
authors.lastname: Sampson
authors.forename: Nihar U
authors.initials: NU
authors.lastname: Sheth
authors.forename: Vishal N
authors.initials: VN
authors.lastname: Koparde
authors.forename: Allison F
authors.initials: AF
authors.lastname: Scalora
authors.forename: Myrna G
authors.initials: MG
authors.lastname: Serrano
authors.forename: Vladimir
authors.initials: V
authors.lastname: Lee
authors.forename: Catherine H
authors.initials: CH
authors.lastname: Roberts
authors.forename: Max
authors.initials: M
authors.lastname: Jameson-Lee
authors.forename: Andrea
authors.initials: A
authors.lastname: Ferreira-Gonzalez
authors.forename: Masoud H
authors.initials: MH
authors.lastname: Manjili
authors.forename: Gregory A
authors.initials: GA
authors.lastname: Buck
authors.forename: Michael C
authors.initials: MC
authors.lastname: Neale
authors.forename: Amir A
authors.initials: AA
authors.lastname: Toor
mesh_terms: D059472:Exome / Q000235:genetics*; D015723:Gene Library; D014644:Genetic Variation / Q000235:genetics; D006084:Graft Rejection / Q000235:genetics; D006086:Graft vs Host Disease / Q000235:genetics; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA; D033581:Stem Cell Transplantation; D023001:Transplantation Tolerance / Q000235:genetics*; D014184:Transplantation, Homologous
keywords: alloreactivity potential; graft-versus-host disease; single nucleotide polymorphism; stem cell transplant; whole exome sequencing
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