Report of the committee on the genetic constitution of the X chromosome (Part 1 of 7)

Davies, Kay E.; Jl, Mandel; Monaco, Anthony P.; Nussbaum, R.L.; Willard, H.F.; Francis, M.; Ishikawa-Brush, Yumiko; Reed, Vivienne

doi:10.1159/000133183

Cited by 69 publications

(10 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Placement of D YT3 proximal to DXS72 and distal to DXS159 was based on multipoint likelihood estimates, allelic association, and observation of a recombination event between DYT3 and DXS72. We also observed significant allelic association between DYT3 and the PGKI locus, which lies between loci DXS72 and DXS159 (9). Here we report on the further delineation of DYT3.…”

supporting

confidence: 54%

“…2). 4548-7 was derived from a YAC containing locus DXS56, which is estimated to be 1-2 centimorgans (cM) proximal to PGKI (9). Given that PGKI lies between loci DXS159 and DXS72, which flank DYT3, the finding of a recombination event between 4548-7 and DYT3 assigns the XDP locus to the proximal half of this interval and establishes 4548-7 as the new distal flanking marker.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Delineation of the dystonia-parkinsonism syndrome locus in Xq13.

Graeber

Kupke

Müller

1992

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

The X chromosome-linked dystonia-parkinsonism syndrome (XDP) is a severe movement disorder, characterized by both dystonia and parkinsonism. XDP is a genetically homogeneous disorder. Known ancestry of all patients has been traced back to Panay, Philippines, where the disease probably originated from a single mutation (founder effect). The gene locus, DYT3, has been previously assigned to the proximal long arm of the X chromosome (Xql2-q21.1). Using four dinucleotide tandem repeat (DNTR) sequences from Xql3-derived yeast artificial chromosomes (YACs), we further delineate DYT3 within Xql3. Observation of a recombination event between DYT3 and DNTR locus 4548-7, derived from a YAC encompassing locus DXS56, establishes 4548-7 as a distal flanking marker. Assignment of DYT3 to a region in Xql3, flanked by loci 4548-7 and DXS159, is further supported by highly significant allelic association between DYT3 and a total of four DNTR loci-PY2-31, PY5-10, 4548-1, and 4548-7-located in a region defied by PGKI and DXS56. 1k1 and JAl values were 0.82/0.35, 0.78/0.42, 0.65/0.34, and 0.88/0.58 for PY2-31 , PY5-10, 4548-1, and 4548-7 atP < 10-2, P < 10-4, P < 10-3, and P < 10-6.The X chromosome-linked dystonia-parkinsonism syndrome (XDP) is a severe movement disorder most likely caused by a malfunction of the basal ganglia (1-3). XDP is characterized by dystonia-i.e., "involuntary, sustained muscle contractions resulting in twisting and repetitive movements, or abnormal postures" (4), and concurrent parkinsonian symptoms in a significant percentage of patients (2, 5). The mean age of onset of XDP is 35 ± 8 years (range, 12-50 years) with an age-dependent penetrance apparently complete by the end of the 5th decade (2). The prevalence of XDP is highest in the Philippine island of Panay, where it probably originated from a single mutation (founder effect). Known ancestry of patients, including those diagnosed in North America, has been traced back to Panay, Philippines. XDP thus appears to be a genetically homogeneous disorder.Idiopathic parkinsonism, clinically characterized by a combination of the symptoms bradykinesia, rigidity, tremor, and loss of postural reflexes, affects ==1% of all Americans older than 50 years (6). The major neuropathologic findings are loss of dopaminergic neurons, notably in the substantia nigra and related nuclei (7). The cause of this degeneration is unclear. Unlike XDP, idiopathic parkinsonism is usually not inherited as a Mendelian trait, and both environmental and genetic factors are implicated in its etiology. The genetic component of the disorder is presently not amenable to analysis.Knowledge of genes involved in pathogenesis of basal ganglia dysfunction may greatly contribute to a better understanding ofboth dystonia and parkinsonism. One approach to identify such genes is the investigation of rare genetic disorders, which are inherited as Mendelian traits. Due to its genetic homogeneity and X chromosome-linked recessive mode of inheritance, XDP is well suited for such analysis.In an ef...

show abstract

supporting

confidence: 54%

Section: Discussionmentioning

confidence: 99%

Delineation of the dystonia-parkinsonism syndrome locus in Xq13.

Graeber

Kupke

Müller

1992

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

show abstract

“…(6) EcoRI digests hybridised with 50f2 (DYS7). DYS7/A and DYS7/B are absent in the patient (7). EcoRI digests hybridised with 52d (DYF27).…”

mentioning

confidence: 99%

Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

Ogata

Tyler‐Smith

Purvis‐Smith

et al. 1993

Journal of Medical Genetics

View full text Add to dashboard Cite

Although recent cytogenetic and molecular studies in patients with Turner stigmata are consistent with a gene(s) for Turner stigmata being present on both Xp and Yp, the precise location has not been determined. In this report, we describe a phenotypically female infant with Turner stigmata and a partial Yp deletion and review genotype-phenotype correlations of the putative Turner gene(s) in non-mosaic patients with Y chromosome rearrangements resulting from chromosomal breakage at Yp or Yc (pericentromeric region). The results indicate that the putative Turner gene(s) on Yp is located in the Y specific region from interval lAlA to interval 2B. In addition, assessment of ZFX/ZFY and RPS4X/RPS4Y in the context of the Turner gene(s) suggests that ZFX/ZFY rather than RPS4X/RPS4Y could be a candidate gene for the Turner stigmata. (J Med Genet 1993;30:918-22)

show abstract

“…Southern blot hybridisations were carried out in a Hybaid oven and membranes were washed at high stringency (0.2× SSC/0.1% SDS at 65°C) unless otherwise indicated. The following DNA fragments were used as probes for Southern blot hybridisations: DXZ1, a 2 kb BamHI alpha satellite DNA fragment specific for the X centromere (Wolfe et al 1985); 2D12/E2, a 1.2 kb EcoRI fragment from the gamma-X satellitecontaining cosmid clone CX16-2D12 (Lee et al 1995); DXS15, a 2.5 kb EcoRI fragment from pDX13-7 (Davies et al 1991); and 1A10Hd2.5, a 2.5 kb HindIII fragment from the gamma-Y satellite-containing cosmid cM1-A10.…”

Section: Restriction Enzyme Analysis Southern Blot Transfer and Hybrmentioning

confidence: 99%

Distribution of gamma satellite DNA on the human X and Y chromosomes suggests that it is not required for mitotic centromere function

et al. 2000

View full text Add to dashboard Cite

The bulk of the DNA found at human centromeres is composed of tandemly arranged repeats, the most abundant of which is alpha satellite. Other human centromeric repetitive families have been identified, one of the more recent being gamma satellite. To date, gamma satellite DNAs have been reported at the centromeres of human chromosomes 8 and X. Here, we show that gamma-X satellite DNA is not interspersed with the major DZX1 alpha-X block, but rather is organised as a single array of approximately 40-50 kb on the short-arm side of the alpha satellite domain. This repeat array is absent on two mitotically stable Xq isochromosomes. Furthermore, a related repeat DNA has been identified on the human Y chromosome. Fluorescence in situ hybridisation has localised this satellite DNA to the long arm side of the major DYZ3 alpha-Y domain, outside the region previously defined as that required for mitotic centromere function. Together, these data suggest that while blocks of highly related gamma satellite DNAs are present in the pericentromeric regions of both human sex chromosomes, this repeated DNA is not required for mitotic centromere function.

show abstract

Report of the committee on the genetic constitution of the X chromosome (Part 1 of 7)

Cited by 69 publications

References 0 publications

Delineation of the dystonia-parkinsonism syndrome locus in Xq13.

Delineation of the dystonia-parkinsonism syndrome locus in Xq13.

Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

Distribution of gamma satellite DNA on the human X and Y chromosomes suggests that it is not required for mitotic centromere function

Contact Info

Product

Resources

About