22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125–DXS95 in human Xq12–q21.31

Mumm, Steven; Jermak, Christopher; Waeltz, Paul; Schmatz, M; Terrell, Jennifer; McCauley, Brigid; Shoemaker, Michael T.; Srivastava, Anand; Kere, Juha; Nagaraja, Ramaiah

doi:10.1016/s0378-1119(97)00665-3

Cited by 8 publications

(6 citation statements)

References 32 publications

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“…Both loci are found within a single YAC, suggesting that they might be less than 1 Mb apart. 38 Two of the previous XIST-containing ring X chromosomes failing to express XIST also had breakpoints within 1 Mb of XIST. The XIST gene is apparently intact in our patient, as a polymorphism was identified in the promoter that is telomeric to the 3' end of the gene.…”

Section: Discussionmentioning

confidence: 99%

Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay

et al. 2002

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A 46,X,r(X) karyotype was found in a three and a half year old girl with short stature, facial dysmorphism and developmental delay. The clinical findings were consistent with the phenotype described in a limited number of patients with small ring X chromosomes lacking the XIST locus, a critical player in the process of X chromosome inactivation. Surprisingly, in our patient, fluorescent in situ hybridisation demonstrated that the XIST locus was present on the ring X. However, expression studies showed that there was no XIST transcript in peripheral blood cells, suggesting that the ring X had not been inactivated. This was confirmed by the demonstration that both of the patient's alleles for the androgen receptor gene were unmethylated, and that both of the patient's ZXDA alleles were expressed. The active nature of the ring X would presumably result in overexpression of genes that may account for the developmental delay observed for the patient. Using polymorphic markers along the X chromosome, the ring X was determined to be of paternal origin with one breakpoint in the long arm between DXS8037 and XIST and one in the short arm in Xp11.2 between DXS1126 and DXS991. To attempt to determine why the XIST gene failed to be expressed, the promoter region was sequenced and found to have a base change at the same location as a variant previously associated with nonrandom X chromosome inactivation. This mutation was not seen in over one hundred normal X chromosomes examined; however, it was observed in the paternal grandmother who did not show substantial skewing of X chromosome inactivation.

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Section: Discussionmentioning

confidence: 99%

Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay

et al. 2002

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“…For the autosomal regions, the initial dinucleotide marker was chosen as near to the disease locus as possible, and the other loci studied were selected over gradually increasing distances ( Figure 2). The two X-chromosomal regions differ in the density of the markers studied; on Xq13, 8 microsatellites map to a region of < 4 cM, 25 whereas on Xp22, 7 markers are located with 15 cM (Figure 2). …”

Section: Microsatellite Typingmentioning

confidence: 99%

Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo

et al. 2000

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Linkage disequilibrium (LD), non-random association of alleles at closely linked chromosomal loci, has been used as a tool in the identification of disease alleles, and this has led to an improved understanding of pathology in many monogenic Mendelian human diseases. We are currently moving from the mapping and identification of monogenic disease loci to attempts at identifying loci involved in predisposition to multifactorial diseases. In the selection of ascertainment strategies in the studies of these complex diseases, the extent of background LD in different populations is an important consideration. Here, we compare the extent of LD among the alleles of linked loci in a randomly ascertained sample of individuals from the Finnish population and a set of individuals ascertained from the region of Kuusamo, a small sub-population, founded some 13 generations ago, which has experienced very little subsequent immigration. Thirty-three microsatellite loci were genotyped in chromosomal regions on 13q, 19q, 21q, Xq, and Xp. The genetic diversity of these loci was determined separately in the general Finnish sample and in the Kuusamo sample. The X-chromosomal loci are characterised by higher levels of LD in the samples from Kuusamo than in the much larger (and older) general population of Finland, whereas in alleles of autosomal loci very little LD was seen in either of these two samples.

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“…Comparisons of genetic and physical maps for the published contigs in Xp22. 3-p21.3 (Ferrero et al, 1995) Xp21.3-p11.3 (Nagaraja et al, submitted for publication), Xq12-q21.31 (Mumm et al, 1998) and Xq26.1-qter [summarized in Nagaraja et al, (1997)] have shown that there is good agreement between the physical and genetic order of CA repeats and the genetic map Therefore, it is reasonable to order and orient the 6 contigs based on their CA repeat content, as schematized in Fig. 2A.…”

Section: Contig Order and Comparison With Genetic And Radiation Hybrimentioning

confidence: 99%

Integrated YAC/STS Physical and Genetic Map of 22.5 Mb of Human Xq24–q26 at 56-kb Inter-STS Resolution

et al. 1998

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22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125–DXS95 in human Xq12–q21.31

Cited by 8 publications

References 32 publications

Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay

Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay

Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo

Integrated YAC/STS Physical and Genetic Map of 22.5 Mb of Human Xq24–q26 at 56-kb Inter-STS Resolution

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