Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications.
The Y-STR DYS19 is firmly established in the repertoire of Y-chromosomal markers used in forensic analysis yet is poorly understood at the molecular level, lying in a complex genomic environment and exhibiting null alleles, as well as duplications and occasional triplications in population samples. Here, we analyse three null alleles and 51 duplications and show that DYS19 can also be involved in inversion events, so that even its location within the short arm of the Y chromosome is uncertain. Deletion mapping in the three chromosomes carrying null alleles shows that their deletions are less than approximately 300 kb in size. Haplotypic analysis with binary markers shows that they belong to three different haplogroups and so represent independent events. In contrast, a collection of 51 DYS19 duplication chromosomes belong to only four haplogroups: two are singletons and may represent somatic mutation in lymphoblastoid cell lines, but two, in haplogroups G and C3c, represent founder lineages that have spread widely in Central Europe/West Asia and East Asia, respectively. Consideration of candidate mechanisms underlying both deletions and duplications provides no evidence for the involvement of non-allelic homologous recombination, and they are likely to represent sporadic events with low mutation rates. Understanding the basis and population distribution of these DYS19 alleles will aid in the utilisation and interpretation of profiles that contain them.
Balaresque
Patricia
P
Department of Genetics, University of Leicester, University Road, Leicester, LE1 7RH, UK.
Parkin
Emma J
EJ
Roewer
Lutz
L
Carvalho-Silva
Denise R
DR
Mitchell
R John
RJ
van Oorschot
Roland A H
RA
Henke
Jürgen
J
Stoneking
Mark
M
Nasidze
Ivan
I
Wetton
Jon
J
de Knijff
Peter
P
Tyler-Smith
Chris
C
Jobling
Mark A
MA
D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D041322:Chromosomes, Human, Y; D004587:Electrophoresis, Agar Gel; D053803:Forensic Genetics; D020440:Gene Duplication; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D020080:Tandem Repeat Sequences
D005819:Genetic Markers