MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome
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MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome
Y chromosome deletions arise frequently in human populations, where they cause sex reversal and Turner syndrome and predispose individuals to infertility and germ cell cancer. Knowledge of the nucleotide sequence of the male-specific region of the Y chromosome (MSY) makes it possible to precisely demarcate such deletions and the repertoires of genes lost, offering insights into mechanisms of de...
متن کاملAre sequence family variants useful for identifying deletions in the human Y chromosome?
DELETION RESULT AT STS a sY142 sY1197 sY1191, sY1192, and/or 50f2/C sY1291 sY1206 sY1201 b2/b3 b ϩ ϩ Ϫ ϩ ϩ ϩ gr/gr ϩ ϩ ϩ Ϫ ϩ ϩ b1/b3 ϩ Ϫ Ϫ Ϫ ϩ ϩ b2/b4 c ϩ ϩ Ϫ Ϫ Ϫ ϩ None ϩ ϩ ϩ ϩ ϩ ϩ NOTE.—See Kuroda-Kawaguchi et al. a ϩ p present; Ϫ p absent. b Termed the " g1/g3 " deletion by Fernandes et al. (2004). c " Classical " AZFc. To the Editor: We read with interest the report of a novel deletion of p...
متن کاملMolecular Study of Partial Deletions of AZFc Region of the Y Chromosome in Infertile Men
Background & Aims: The most significant cause of infertility in men is the genetic deletion in the azoospermia factor (AZF) region that is caused by the process of intra- and inter-chromosomal homologous recombination in amplicons. Homologous recombination could also result in partial deletions in AZF region. The aim of this research was to determine the association between the partial AZFc del...
متن کاملGenomic integrity of the Y chromosome sequence-tagged-sites in infertile and Down syndrome Jordanian males.
The long arm of the Y chromosome contains nonoverlapping regions termed azoospermia factor (AZF) with great influence on male fertility. Microdeletions at these regions minimise the males' ability to father offsprings. In this preliminary study, we attempted to screen the presence or absence of twenty Y chromosome's sequence-tagged sites (STS) associated with fertility in infertile and Down syn...
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Changes in regulatory DNA contribute to phenotypic differences within and between taxa. Comparative studies show that many transcription factor binding sites (TFBS) are conserved between species whereas functional studies reveal that some mutations segregating within species alter TFBS function. Consistently, in this analysis of 13 regulatory elements in Drosophila melanogaster populations, sin...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 2007
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/gkm849