The 1991 catalog of mapped genes and report of the nomenclature committee (Part 1 of 5)

McAlpine, P.J.; Shows, T.B.; Boucheix, Claude; Huebner, Marianne; Anderson, Walter A.

doi:10.1159/000133160

Cited by 52 publications

(13 citation statements)

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“…No relationship has been established between SAA and any translocation (Appelbaum et al, 1987;Heim & Mitelman, 1995). A study of fragile sites and known genes (Table I) adjacent to the breakpoint described here do not immediately suggest a causative role for the translocation in the pathogenesis of aplasia (McAlpine et al, 1991).…”

Section: Discussionmentioning

confidence: 60%

Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c

Hudson¹,

Chown

Lawler

et al. 1997

Br J Haematol

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Summary.Severe aplastic anaemia (SAA) is an uncommon disorder which may be associated with several congenital syndromes. However, it has rarely been described in association with a constitutional karyotypic abnormality. The breakpoint of the balanced t(6;10)(q13;q22) translocation described here does not disrupt any currently recognized gene of haemopoietic or stromal importance. This report also highlights the problems inherent in the use of bone marrow transplantation (BMT) for treating multiply transfused aplastic anaemia patients.Keywords: severe aplastic anaemia, congenital thrombocytopenia, bone marrow transplantation, chromosomal translocation, t(6;10)c.A phenotypically normal Caucasian 3·6 kg male child was noted at birth to be anaemic and thrombocytopenic (haemoglobin 8·1 g/dl, platelets 13 × 10 9 /l, white cell count 5·1 with a normal differential) following an uneventful gestation and delivery. The child had three healthy siblings and there was no family history of note. Ham's test was negative and platelet antibodies were not detected. Levels of chromosomal damage in lymphocyte cultures exposed to alkylating agents were within normal limits. Bone marrow aspirate demonstrated a lack of megakaryocytes but was otherwise normal. Trephine biopsy showed normal cellularity with absent megakaryocytes. Cytogenetic analyses of peripheral blood lymphocytes showed a balanced t(6;10)(q13;q22) translocation in all metaphases examined. A random donor platelet transfusion achieved an increment of 73 × 10 9 /l. The platelet count spontaneously improved over the following months, reaching 284 × 10 9

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Section: Discussionmentioning

confidence: 60%

Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c

Hudson¹,

Chown

Lawler

et al. 1997

Br J Haematol

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“…1991;Levan et al. 1992;McAlpine et al, 1991). The S values deduced from the different data sets are given in Table I.…”

Section: Resultsmentioning

confidence: 99%

Measuring genome reorganization from synteny data

Bengtsson

LeVan²,

Levan³

1993

Cytogenet Genome Res

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Two measures of the degree of genome reorganization based on synteny data are presented. The first, q, measures how far the original syntenic relationships have decayed during the separation of two taxa. The second measure, Q, is a logarithmic transformation of q, so constructed that Q increases unlimitedly while q deflects when reorganization becomes substantial. Numerical examples are given for the genomic reorganizations that have occurred during the evolution of humans, mice and rats. The degree of genome reorganization between the mouse and the rat is estimated to be about 1/5 of the degree of reorganization between humans and the rodent species.

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“…The locus for CMT1A on chromosome 17 is usually associated with duplication or mutation of peripheral myelin protein . This study found that the CMTIB locus on chromosome 1 (5,17) cosegregates with mutations of the MPZ gene (18,19), ¶ which encodes the most common peripheral myelin transmembrane protein.…”

mentioning

confidence: 88%

“…Myelin loss results in both peripheral and central neuropathies such as Guillain-Barre syndrome and multiple sclerosis, respectively (18,20 (19) replaces Po, BR, PO, humspm, MRP, mypO, and myelin Po-protein and avoids confusion with another Po gene. (Fig.…”

mentioning

confidence: 99%

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.

Brooks

et al. 1993

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

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Autosomal dominant of Charcot-MarieTooth disease (CMT), whose gene is type 1B (CMT1B), has slow nerve conduction with demyelinated Schwann cells. In this study the abundant peripheral myelin protein zero (MPZ) gene, MPZ, was mapped 130 kb centromeric to the Fc receptor immunoglobulin gene cluster in band 1q22, and a major MPZ point mutation was found to cosegregate with CMTIB in one large CMT1B family. The MPZ point mutation in 18 of 18 related CMT1B pedigree 1 patients converts a positively charged lysine in codon 96 to a negatively charged glutamate. The same MPZ locus cosegregates with the CMTIB disease gene in a second CMT1B family [total multipoint logarithm of odds (lod) = 11.4 at 0 = 0.00] with a splice junction mutation. Both mutations occur in MPZ protein regions otherwise conserved identically in human, rat, and cow since these species diverged 100 million years ago. MPZ protein, expressed exclusively in myelinated peripheral nerve Schwann cells, constitutes >50% of myelin protein. These mutations are anticipated to disrupt homophilic MPZ binding and result in CMT1B peripheral nerve demyelination.

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The 1991 catalog of mapped genes and report of the nomenclature committee (Part 1 of 5)

Cited by 52 publications

References 0 publications

Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c

Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c

Measuring genome reorganization from synteny data

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.

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