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Comment
. 2004 Sep;75(3):514-7; author reply 517-9.
doi: 10.1086/423394.

Are sequence family variants useful for identifying deletions in the human Y chromosome?

Sjoerd Repping, Cindy M Korver, Robert D Oates, Sherman Silber, Fulco van der Veen, David C Page, Steve Rozen
Comment

Are sequence family variants useful for identifying deletions in the human Y chromosome?

Sjoerd Repping et al. Am J Hum Genet. 2004 Sep.
No abstract available

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Figures

Figure 1
Figure 1
Genealogical analysis of SFV patterns associated with b2/b3 and gr/gr deletions. In the SFV patterns, “C” indicates the cut variant described by Fernandes et al. (2004), “U” indicates the uncut variant, “B” indicates both variants, and + and − indicate the presence or absence, respectively, of the Y-DAZ3 variant. The order of SFVs is as shown in table 2 in the work of Fernandes et al. (2004): DAZ-SNV I, DAZ-SNV II, sY586 (DAZ-SNV III), DAZ-SNV IV, sY587 (DAZ-SNV V), DAZ-SNV VI, AZFc SFV 18 (assayed by Y-DAZ3), TTY4-SNV I, BPY2-SNV, GOLY-SNV I, and AZFc SFV 20 (AZFc-P1-SNV I) (Saxena et al. ; Kuroda-Kawaguchi et al. [Web table E]; Fernandes et al. 2002, 2004). The genealogical tree of extant human Y chromosomes and the branch designations are from the studies by Underhill et al. (2000) and the Y-Chromosome Consortium (2002). §, R1*x is an abbreviation for R1*(xR1a,R1/-USP9Y+3636). †, Termed “g1/g3” by Fernandes et al. (2004).
See this image and copyright information in PMC

Comment on

References

Electronic-Database Information

    1. GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for STSs 50f2/C [accession number Y07728], sY142 [accession number G38345], sY1191 [accession number G73809], sY1192 [accession number G67166], sY1197 [accession number G67168], sY1201 [accession number G67170], sY1206[accession number G67171], and sY1291 [accession number G72340] and for SFV assays DAZ-SNV I [accession number G73167], DAZ-SNV II [accession number G73166], sY586 [accession number G63907], DAZ-SNV IV [accession number G73168], sY587 [accession number G63908], DAZ-SNV VI [accession number G73169], Y-DAZ3 [accession number G73170], TTY4-SNV I [accession number BV012731], BPY2-SNV [accession number BV012732], GOLY-SNV I [accession number BV012733], and AZFc SFV 20 [AZFc-P1-SNV I] [accession number G73351])
    1. Nature Genetics,http://www.nature.com/ng/journal/v29/n3/extref/ng757-S6.doc (for AZFc SFVs 18 and 20 in Web table E in Kuroda-Kawaguchi et al. 2001)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for AZFc) - PubMed

References

    1. Fernandes S, Huellen K, Goncalves J, Dukal H, Zeisler J,Rajpert De Meyts E, Skakkebaek NE, Habermann B, Krause W, Sousa M, Barros A, Vogt PH (2002) High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol Hum Reprod 8:286–29810.1093/molehr/8.3.286 - DOI - PubMed
    1. Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH (2004) A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet 74:180–187 - PMC - PubMed
    1. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279–28610.1038/ng757 - DOI - PubMed
    1. Repping S, Skaletsky H, Brown L, van Daalen SKM, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, de Vries JWA, Oates RD, Silber S, van der Veen F, Page DC, Rozen S (2003) Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 35:247–25110.1038/ng1250 - DOI - PubMed
    1. Repping S, van Daalen SKM, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC, Rozen S (2004) A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics 83:1046–105210.1016/j.ygeno.2003.12.018 - DOI - PubMed

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