Clustered GATA repeats (Bkm sequences) on the human Y chromosome

Arnemann, J.; Jakubiczka, Sibylle; Schmidtke, Jörg; Schäfer, Renate; Epplen, Jörg T.

doi:10.1007/bf00279090

Cited by 34 publications

(24 citation statements)

References 13 publications

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“…These were the GATA repeat DYS19, 8,21,22 the tetranucleotide 17 The markers were amplified by PCR as described earlier 8,17,22 using fluorescent primers applicable for the used sequencer. After amplification, the fragments were separated on 6% denaturing PAGE-gel on ALF Express (Pharmacia LKB, Uppsala, Sweden) or ABI Prism 377 (Perkin Elmer, Foster City, USA) automatic sequencers.…”

Section: Analysis Of the Microsatellite Locimentioning

confidence: 99%

Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami

Lahermo

Sistonen

et al. 1999

Eur J Hum Genet

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Y chromosomal polymorphisms were studied in 502 males from 16 Eurasian ethnic groups including the Finns, Saami (Inari Lake area and Skolt Saami), Karelians, Mari, Mokshas, Erzas, Hungarians (Budapest area and Csángós), Khanty, Mansi, Yakuts, Koryaks, Nivkhs, Mongolians, and Latvians. The samples were analysed for polymorphisms in the Y chromosome specific Alu insertion (YAP) and six microsatellites (DYS19, DYS389-I and II, DYS390, DYS392, DYS393). The populations were also screened for the recently described Tat polymorphism. The incidence of YAP + type was highest in the Csángós and in other Hungarians (37.5% and 17.5%, respectively). In the Karelians and the Latvians it was present at approximately the same level as commonly found in other European populations, whilst absent in our further samples of Eurasian populations, including the Finns and the Saami. Aside from the Hungarians, the C allele of the Tat polymorphism was common in all the Finno-Ugric speaking populations (from 8.2% to 63.2%), with highest incidence in the Ob-Ugrian Khanty. The C allele was also found in the Latvians (29.4%). The haplotypes found associated with the Tat C allele showed consistently lower density than those associated with the T allele, indicating that the T allele is the original form. The computation of the age of the Tat C suggested that the mutation might be a relatively recent event giving a maximum likelihood estimate of 4440 years (95% confidence interval about 3140-6200 years). The distribution patterns of the 222 haplotypes found varied considerably among the populations. In the Finns a majority of the haplotypes could be assigned to two distinct groups, one of which harboured the C allele of the Tat polymorphism, indicating dichotomous primary source of genetic variation among Finnish males. The presence of a bottleneck or founding effect in the male lineages of some of the populations, namely in the Finns and the Saami, would appear to be one likely interpretation for these findings.

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Section: Analysis Of the Microsatellite Locimentioning

confidence: 99%

Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami

Lahermo

Sistonen

et al. 1999

Eur J Hum Genet

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“…In contrast to polymorphisms of the mito chondrial DNA [3], it its possible to follow the paternal line using the Y-specific polymor phisms [4][5][6]. The SSLP of the locus DYS19 detects a simple repeat of the short arm of the Y-chromosome [7]. This region could be am plified with the aid of PCR technology [8].…”

Section: Introductionmentioning

confidence: 99%

The Y-Specific SSLP of the Locus DYS19 in Four Different European Samples

Müller

Gomolka²,

Walter³

1994

Hum Hered

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“…Since other observations (11)(12)(13)24) indicate, that around 90% of the XX-males carry DNA sequences detectable with Y-chromosomal probes, these findings suggest that DYS14 is not very closely linked with TDF. In the same DNA linkage group Bkm related sequences are mapped as well (25) (26)(27)(28)(29) and transcribed in different tissues (-28,30). As studies on mice with the mutation "sex-reversed" (sxr) mapped Bkm related DNA sequences in the neighbouring region of TDF (31,32), those DNA sequences have been connected to sexdetermination and/or differentiation.…”

Section: W L a T L R N S G H R A T N P T I P K T T Q P A C A W T L S Y Pmentioning

confidence: 99%

“…In addition the simple quadruplets repeats GATA and GACA, the main components of Bkm DNA (27,30), were found on several human Y-derived cosmid clones and mapped to the median part of Yp and the proximal part of Yq (25).…”

Section: W L a T L R N S G H R A T N P T I P K T T Q P A C A W T L S Y Pmentioning

confidence: 99%

A human Y-chromosomal DNA sequence expressed in testicular tissue

Arnemann¹,

Epplen

Cooke

et al. 1987

Nucl Acids Res

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Clone pJA36B(DYS14) was isolated from a human Y chromosome enriched cosmid library. Southern blot analysis revealed a malespecific hybridization pattern. Deletion mapping with patients' DNA localized pJA36B to the median region of Yp, being present in the DNA of nine of fifteen XX-males tested so far and therefore localized in the region neighbouring the TDF-locus. Northern blot analysis showed a transcription signal in poly(A)+RNA of human testis. Sequence analysis of the genomic DNA sequence revealed an open reading frame of 522 basepairs in the absense of control or signal sequences for the regulation of transcription or polyadenylation. This suggests that only one exon of a translatable sequence is present in clone pJA36B. A computer aided search revealed no significant homologies with known DNA or protein sequences.

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Clustered GATA repeats (Bkm sequences) on the human Y chromosome

Cited by 34 publications

References 13 publications

Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami

Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami

The Y-Specific SSLP of the Locus DYS19 in Four Different European Samples

A human Y-chromosomal DNA sequence expressed in testicular tissue

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