Selection of DNA sequences from interval 6 of the human Y chromosome with homology to a Y chromosomal fertility gene sequence of Drosophila hydei

Vogt, Peter H.; Keil, Ralph L.; Köhler, Michael; Lengauer, Christoph; Lewe, D.; Lewe, Gunhild

doi:10.1007/bf00201830

Cited by 21 publications

(16 citation statements)

References 39 publications

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“…DXYS14 (Cooke et al 1985), DXYS15, DXYS17 (Simmler et al 1987), DXYS20 and DXYS28 (Page et al 1987). Simple sequence families, such as (Ca)n (Vogt et al 1989) and (gata), (Arnemann et al 1986) have also been identified on Yp, but their degree of variability has not been studied in detail.…”

Section: Introductionmentioning

confidence: 99%

Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts

Roewer

Arnemann²,

Spurr³

et al. 1992

Hum Genet

240

122

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The human genome contains a large number of interspersed simple repeat sequences that are variable in length and can therefore serve as highly informative, polymorphic markers. Typing procedures include conventional multilocus and single locus probing, and polymerase chain reaction aided analysis. We have identified simple sequences in a cosmid clone stemming from the human Y chromosome and consisting of (gata)n repeats. We have compared these with two equivalent simple repeat loci from chromosome 12. After amplifying the tandemly repeated motifs, we detected between four and eight different alleles at each of the three loci. Codominant inheritance of the alleles was established in family studies and the informativity of the simple repeat loci was determined by typing unrelated individuals. The polymorphisms are suitable for application in linkage studies, practical forensic case work, deficiency cases in paternity determination, and for studying ethnological questions. The mutational mechanisms that bring about changes in simple repeats located both on the autosomes and on the sex chromosomes, are discussed.

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Section: Introductionmentioning

confidence: 99%

Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts

Roewer

Arnemann²,

Spurr³

et al. 1992

Hum Genet

240

122

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“…Y6BSt64. and Y6BS65 (Vogt et al, 1991). T he 25 PC R prim ers o f the sY prim er fam ily (V ollrath et al, 1992) w ere selected w ith regard to their reliability in m ultiplex PCR experim ents as described by H enegariu et al (1994) and their position in Y q l l .…”

Section: Dna Probes and S Y Primersmentioning

confidence: 99%

“…1990). H ybridizations w ere carried out in heparin buffer u n d e r the co n d itio n s described by Vogt et al (1991).…”

Section: Dna Preparation and Blot Analysismentioning

confidence: 99%

“…In addition, unambi guous mapping of genomic restriction fragments and analysis of linking fragments are no longer dependent on the availability of single-copy DNA probes. DNA probes marking repetitive and X-Y homologous DNA loci also become useful, since the lengths of their cognate fragments are locus-specific (FergusonSmith et al, 1987;Bardoni et al" 1991;Vogt et al" 1991;O'Reilly et al. 1992).…”

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confidence: 99%

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Molecular analysis of the genomic structure of the human Y chromosome in the euchromatic part of its long arm (Yq11)

Kirsch

Keil

Edelmann

et al. 1996

Cytogenet Genome Res

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Conventional methods of long range restriction mapping for analysis of the genomic DNA structure failed in Yql 1, because single-copy DNA probes for blot hybridization analyses are rare and the rate of DNA methylation is high in this Y region. Numerous repetitive sequence blocks of unknown extensions are scattered throughout Yql 1 and a patchwork of X-Y homologous DNA blocks were found by different investigators. Therefore, our approach towards a molecular analysis of this Y region reduced this complexity by performing first its molecular analysis in YAC clones mapping to Yq11. YACs contain only a part of the whole Yq11 DNA structure. In this paper, we present our first results of this approach based on quantitative blot analysis of 51 DNA loci in 67 YAC clones. The YACs were isolated from the three CEPH libraries and mapped to a contig of 13 Mb from proximal to distal Yq11 with aid of a detailed interval map. In distal Yq11, our analysis revealed the presence of local amplification events of different DNA domains. A model of their possible arrangement is presented.

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“…Both amplicons contain significant homology regions to a germ cell-specific transcript ( dhMiF1 ) expressed on the lampbrush loops of the Y chromosome of D. hydei and designated earlier as the pYH6 sequence family [43] . Their major sequence cluster (pY6H14, pYH34, pYH54, pYH64, pYH65) was found on both arms of the P4 palindrome [Keil et al, unpubl.…”

Section: Impairment Of Dynamic Azoospermia Factor Chromosome Structurmentioning

confidence: 99%

Human Y Chromosome and Male Infertility: Forward and Back from Azoospermia Factor Chromatin Structure to Azoospermia Factor Gene Function

Vogt¹,

Bender²,

Zimmer³

et al. 2017

Genetics of Human Infertility

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In the euchromatic part of the long arm of the human Y chromosome (Yq11) at least 13 Y genes encoding proteins and expressed in male germ cells were found in 3 distinct genomic Y regions frequently deleted in infertile men with idiopathic azoospermia, i.e., for unknown reasons no mature sperm were found in their semen fluid. Accordingly, they were designated as azoospermia factor (AZF) regions: AZFa, AZFb, and AZFc. Additionally, 10 Y genes called "testis-specific transcript Y" ( TTTY ) genes were mapped in the same AZF intervals. They belong to the long non-coding RNA gene pool in human germ cells because they seem to lack any protein-coding potential. Distinct chromatin regions in Yq11 overlapping with AZFb and AZFc are supposed to be involved in the premeiotic X and Y chromosome pairing and inactivation process controlling male germ cell meiosis. It can thus be assumed that the germ line function of the AZF loci in Yq11 may be not only based on the expression of some germ cell proteins, but also on the expression of some germ cell-specific TTTY transcripts and a locally dynamic and specific chromatin folding structure probably controlled by some germ cell-specific nuclear proteins.

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Selection of DNA sequences from interval 6 of the human Y chromosome with homology to a Y chromosomal fertility gene sequence of Drosophila hydei

Cited by 21 publications

References 39 publications

Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts

Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts

Molecular analysis of the genomic structure of the human Y chromosome in the euchromatic part of its long arm (Yq11)

Human Y Chromosome and Male Infertility: Forward and Back from Azoospermia Factor Chromatin Structure to Azoospermia Factor Gene Function

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