Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males

Abstract

Deletion of the 50f2/C (DYS7C) locus in interval 6 of Yq has previously been reported as a polymorphism in three males. We describe a survey of worldwide populations for further instances of this deletion. Of 859 males tested, 55 (approximately 6%) show absence of the 50f2/C locus; duplication of the locus was also detected in eight out of 595 males (approximately 1.4%). Populations having the deletion are confined to Asia, Australasia, and southern and northern Europe; of those of reasonable sample size, Finns had the highest deletion frequency (55%; n = 21). The deletions vary in size and the larger ones remove some of the RBM (RNA Binding Motif) genes, but none of the deletion males lack DAZ (Deleted in AZoospermia), a candidate gene for the azoospermia factor. On a tree of Y haplotypes, 28 deletion and eight duplication chromosomes fall into six and four haplotypic groups respectively, each of which is likely to represent an independent deletion or duplication event. Microsatellite and other haplotyping data suggest the existence of at least two further classes of deletion. Thus duplications and deletions in this region of Yq have occurred many times in human evolution, but remain useful markers for paternal lineages.

26-Locus Y-STR typing in a Bhutanese population sample

“…1996 [9]. The design of this novel multiplex and the 5´ end-labelled fluorescent dye of each forward primer are illustrated in Figure 1.…”

MtDNA and Y chromosome polymorphisms in Hungary: inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool

“…7,18,27 Y chromosome analyses 50f2/C deletion (DYS7C), and YAP insertion (DYS-287) These polymorphisms were determined as described by Jobling et al 9 and Hammer and Horai, 23 respectively.…”

“…4 Subsequently, mtDNA and Y chromosome markers, which make it possible to identify separately male and female components in the genetic structure of a population, have been very helpful in revealing that the Uralic speakers, Finns and Saami, show almost exclusively mtDNA lineages of European ancestry [5][6][7][8] but a considerable Y-specific lineage which can be traced back to Siberian and Central Asian peoples. [9][10][11] An important Uralic male component has also been identified in Estonians. 10 These findings are in agreement with the notion that Y chromosome features parallel linguistic data more than do mtDNA and nuclear genes.…”

“…7,[17][18][19] As to Y chromosome variations, the two Hungarian samples were analysed for the 50f2/C deletion, which has been considered to be a very valuable marker of the Uralic migrations; 9 for the 49a, f and 12f2/TaqI RFLPs 20,21 which allowed some paleolithic and neolithic European male lineages to be highlighted. 22 In addition, the Y Alu polymorphism (YAP) which, as the 12f2 system, is a monophyletic bi-allelic marker, 23 and the DYS19 and YCAIIa and b microsatellites 24,25 were examined.…”

Forensic value of 14 novel STRs on the human Y chromosome

“…As more variable Y-STRs are discovered the potential to distinguish paternal lineages increases. Approximately 35 Y-STRs have been described to date [1,[5][6][7][8][9][10][11][12][13][14][15]. In total, these Y-STRs include: four dinucleotide (YCAI, YCAII, YCAII, and DYS288) six trinucleotide (DYF371, DYS388, DYS392, DYS425, DYS426, DYS436), 23 tetranucleotide (DYS19, DYS385, DYS389I, DYS389AB, DYS390, DYS391, DYS393, DYS434, DYS435, DY437, DYS439, DYS441, DYS442, DYS443, DYS444, DYS445, DYS460, DYS461, DYS462, G10123, A10, C4, and H4), and two pentanucleotide repeats (DXYS156Y, and DYS438).…”