ABSTRACT
A new sequence-tagged site (STS) was identified within intron 26 of the bovine USP9Y gene, showing an 81-base pair insertion (g.76439_76440ins81 in sequence with GenBank accession FJ195366) able to distinguish Y2 and Y3 Bos Y haplogroups from Y1. Moreover, four Y3-specific sequence variants allow a distinction from haplogroup Y2. The typing of a Bison bison Y chromosome indicates that the ancestral allele for the USP9Y 81-bp insertion is the short Y1 version. The results from typing the new STS in 1230 cattle Y chromosomes are fully consistent with their classification through standard methods. Thanks to the newly identified STS, it is now possible to assign cattle Y chromosomes to the currently known haplogroups using a single marker.
Subject(s)
Cattle/genetics , Chromosomes, Mammalian/classification , Polymorphism, Genetic , Thiolester Hydrolases/genetics , Y Chromosome/classification , Animals , Base Sequence , Evolution, Molecular , Genetic Markers , Haplotypes , Introns , Male , Molecular Sequence Data , Phylogeny , Polymerase Chain Reaction , Sequence Alignment , Sequence Tagged SitesABSTRACT
Presentamos los primeros datos de secuencias STRs del cromosoma Y en tres poblaciones diferentes de Zulia, Venezuela. Haplotipos basados en el análisis de cuatro Y-STRs: DYS19, DYS390, DYS391 y DYS393 se construyeron en una muestra de 160 hombres no relacionados genéticamente. Se observó diferencias en las frecuencias de haplotipos específicos, en particular entre Maracaibo e Isla de Toas sobre Wayúu. En éstos, los haplotipos más frecuentes incluían alelos marcadores de poblaciones amerindias mientras que en poblaciones de Maracaibo e Isla de Toas incluían alelos de poblaciones europeas (AU)
Subject(s)
Male , Humans , Haplotypes/genetics , Y Chromosome/classification , Y Chromosome/genetics , Microsatellite Repeats/genetics , Venezuela , Genetic Markers , Genetics, PopulationABSTRACT
The Y chromosome contains the largest nonrecombining block in the human genome. By virtue of its many polymorphisms, it is now the most informative haplotyping system, with applications in evolutionary studies, forensics, medical genetics, and genealogical reconstruction. However, the emergence of several unrelated and nonsystematic nomenclatures for Y-chromosomal binary haplogroups is an increasing source of confusion. To resolve this issue, 245 markers were genotyped in a globally representative set of samples, 74 of which were males from the Y Chromosome Consortium cell line repository. A single most parsimonious phylogeny was constructed for the 153 binary haplogroups observed. A simple set of rules was developed to unambiguously label the different clades nested within this tree. This hierarchical nomenclature system supersedes and unifies past nomenclatures and allows the inclusion of additional mutations and haplogroups yet to be discovered.
Subject(s)
Haplotypes/genetics , Terminology as Topic , Y Chromosome/classification , Y Chromosome/genetics , Cell Line , Genetic Markers , Humans , MaleABSTRACT
Most eukaryotic chromosomes, akin to messy toolboxes, store jumbles of genes with diverse biological uses. The linkage of a gene to a particular chromosome therefore rarely hints strongly at that gene's function. One striking exception to this pattern of gene distribution is the human Y chromosome. Far from being random and diverse, known human Y-chromosome genes show just a few distinct expression profiles. Their relative functional conformity reflects evolutionary factors inherent to sex-specific chromosomes.
