Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During a systematic chromosomal survey of 167 unrelated boys with the X-linked recessive Menkes disease (MIM 309400), a unique rearrangement of the X chromosome was detected, involving an insertion of the long arm segment Xq13.3-q21.2 into the short arm at band Xp11.4, giving the karyotype 46,XY,ins(X) (p11.4q13.3q21.2). The same rearranged X chromosome was present de novo in the subject's phenotypically normal mother, where it was preferentially inactivated. The restriction fragment length polymorphism and methylation patterns at DXS255 indicated that the rearrangement originated from the maternal grandfather. Together with a previously described X;autosomal translocation in a female Menkes patient, the present finding supports the localization of the Menkes locus (MNK) to Xq13, with a suggested fine mapping to sub-band Xq13.3. This localization is compatible with linkage data in both man and mouse. The chromosomal bend associated with the X-inactivation center (XIC) was present on the proximal long arm of the rearranged X chromosome, in line with a location of XIC proximal to MNK. Combined data suggest the following order: Xcen-XIST(XIC), DXS128-DXS171, DXS56-MNK-PGK1-Xqter.
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PMID:Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2. 134 49

We have used human/mouse hybrid cell lines to derive a pulsed-field map of the Xq13 region of the human X chromosome, in the vicinity of the X inactivation center (XIC). We have mapped nine loci within two separate clusters (I and II). Cluster I contains three loci (DXS227, XIST, and DXS128) linked within 1700 kb. This cluster also includes the breakpoint of a translocated X;14 chromosome used to define the proximal border of the XIC region. Cluster II covers an additional 1800 kb and physically links six loci (DXS56, DXS171, DXS325, DXS347, DXS356, and DXS441) located between the XIC and the genes for Menkes disease (MNK) and PGK1. Maps of cluster I loci derived from active (Xa) or inactive (Xi) X chromosomes differed, presumably due to methylation differences between the Xa and Xi. This map provides a basis for examining the organization of the Xq13.2-q13.3 region, in and around the XIC, and will assist in the further cloning of expressed sequences from this region.
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PMID:Pulsed-field map of Xq13 in the region of the human X inactivation center. 840 3