Chromosomal localization of ZFX—A human gene that escapes X inactivation—and its murine homologs

Page, David C.; Distèche, Christine M.; Simpson, Elizabeth M.; Chapelle, Albert de la; Andersson, M; Alitalo, Tiina; Brown, Laura G.; Green, Phil; Akots, Gita

doi:10.1016/0888-7543(90)90516-w

Cited by 46 publications

(9 citation statements)

References 38 publications

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“…Contrary to expectation for the Palauan sample, females with IL1RAPL1 duplications are affected more than would be expected by chance. Selective or incomplete inactivation of the X chromosome could explain the diversity of the phenotype in females, consistent with several studies reporting some X-linked genes escaping X-inactivation in the Xp21.3-p22.1 boundary (60, 61). Because the CNV duplicates two exons of IL1RAPL1 , it is likely that it alters the conformation of the resulting protein, thereby functioning as a mutation.…”

Section: Discussionsupporting

confidence: 89%

Copy Number Variants for Schizophrenia and Related Psychotic Disorders in Oceanic Palau: Risk and Transmission in Extended Pedigrees

Melhem

Middleton

McFadden

et al. 2011

Biological Psychiatry

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Background We report on copy number variants (CNVs) found in Palauan subjects ascertained for schizophrenia and related psychotic disorders in extended pedigrees in Palau. We compare CNVs found in this Oceanic population to those seen in other samples, typically of European ancestry. Assessing CNVs in Palauan extended pedigrees yields insight into the evolution of risk CNVs, such as how they arise, are transmitted, and are lost from populations by stochastic or selective processes, none of which is easily measured from case-control samples. Methods DNA samples from 197 subjects affected with schizophrenia and related psychotic disorders, 185 of their relatives, and 159 controls were successfully characterized for CNVs using Affymetrix Genomewide Human SNP Array 5.0. Results CNVs thought to be associated with risk for schizophrenia and related disorders also occur in affected individuals in Palau, specifically 15q11.2 and 1q21.1 deletions, partial duplication of IL1RAPL1 (Xp21.3), and chromosome X duplications (Klinefleter’s syndrome). Partial duplication within A2BP1 appears to convey an 8-fold increased risk in males (95% CI, 0.8–84.4) but not females (OR=0.4, 95% CI, 0.03–4.9). Affected-only linkage analysis using this variant yields a LOD score of 3.5. Conclusions This study reveals CNVs that confer risk to schizophrenia and related psychotic disorders in Palau, most of which have been previously observed in samples of European ancestry. Only a few of these CNVs show evidence that they have existed for many generations, consistent with risk variants diminishing reproductive success.

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Section: Discussionsupporting

confidence: 89%

Copy Number Variants for Schizophrenia and Related Psychotic Disorders in Oceanic Palau: Risk and Transmission in Extended Pedigrees

Melhem

Middleton

McFadden

et al. 2011

Biological Psychiatry

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“…For example, excessive germ cell loss occurs in female mice possessing deletions in X-linked`fertility' genes, such as Zfx. 50 Since a human Zfx counterpart exists, 51 some X-chromosome anomalies in humans may lead to oocyte loss and premature ovarian failure due to the functional absence of a key factor(s) needed for signaling germ cell survival. On the other hand, in female mice lacking the entire second X chromosome (XO), 52 it has been proposed that selective elimination of germ cells harboring meiotic defects is the basis of the resultant gonadal dysgenesis.…”

Section: Discussionmentioning

confidence: 99%

Caspase-2 deficiency prevents programmed germ cell death resulting from cytokine insufficiency but not meiotic defects caused by loss of ataxia telangiectasia-mutated (Atm) gene function

et al. 2001

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It is well established that programmed cell death claims up to two-thirds of the oocytes produced during gametogenesis in the developing fetal ovaries. However, the mechanisms underlying prenatal germ cell loss in females remain poorly understood. Herein we report that caspase-11 null female mice are born with a reduced number of oocyte-containing primordial follicles. This phenotype is likely due to failed cytokine processing known to occur in caspase-11 mutants since neonatal female mice lacking both interleukin (IL)-1a and IL-1b also exhibit a reduced endowment of primordial follicles. In addition, germ cell death in wild-type fetal ovaries cultured ex vivo is suppressed by either cytokine, likely via ligand activation of type 1 IL-1 receptors expressed in fetal germ cells. Normal oocyte endowment can be restored in caspase-11 null female mice by simultaneous inactivation of the gene encoding the cell death executioner enzyme, caspase-2. However, caspase-2 deficiency cannot overcome gametogenic failure resulting from meiotic recombination defects in ataxia telangiectasia-mutated (Atm) null female mice. Thus, genetically distinct mechanisms exist for developmental deletion of oocytes via programmed cell death, one of which probably functions as a meiotic quality-control checkpoint that cannot be overridden. Cell Death and Differentiation (2001) 8, 614 ± 620.

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“…The mGSTT1 and mGSTT2 genes may thus be in the same syntenic segment as these two genes. The mouse zinc-finger protein, autosomal gene (Zfa), which maps to 24.5 cM, has been localized by in situ hybridization to band B [54], and the transformed mouse 3T3 cell double minute-1 and 2 genes (Mdm1 and Mdm2), which map to 64 cM, have been physically localized to band C [55]. It may be concluded that mGSTT1 and mGSTT2 almost certainly fall between 24.5 and 64 cM along with Bcr and Gnaz.…”

Section: Synteny Between Mammalian Theta Class Gst Locimentioning

confidence: 99%

Gene structure, expression and chromosomal localization of murine Theta class glutathione transferase mGSTT1-1

Whittington

Vichai

Webb

et al. 1998

Biochemical Journal

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We have isolated and characterized a cDNA and partial gene encoding a murine subfamily 1 Theta class glutathione transferase (GST). The cDNA derived from mouse GSTT1 has an open reading frame of 720 bp encoding a peptide of 240 amino acids with a calculated molecular mass of 27356 Da. The encoded protein shares only 51% deduced amino acid sequence identity with mouse GSTT2, but greater than 80% deduced amino acid sequence identity with rat GSTT1 and human GSTT1. Mouse GSTT1-1 was expressed in Escherichia colias an N-terminal 6× histidine-tagged protein and purified using immobilized-metal affinity chromatography on nickel-agarose. The yield of the purified recombinant protein from E. coli cultures was approx. 14 mg/l. Recombinant mouse GSTT1-1 was catalytically active towards 1,2-epoxy-3-(p-nitrophenoxy)propane, 4-nitrobenzyl chloride and dichloromethane. Low activity towards 1-menaphthyl sulphate and 1-chloro-2,4-dinitrobenzene was detected, whereas mouse GSTT1-1 was inactive towards ethacrynic acid. Recombinant mouse GSTT1-1 exhibited glutathione peroxidase activity towards cumene hydroperoxide and t-butyl hydroperoxide, but was inactive towards a range of secondary lipid-peroxidation products, such as the trans-alk-2-enals and trans,trans-alka-2,4-dienals. Mouse GSTT1 mRNA is most abundant in mouse liver and kidney, with some expression in intestinal mucosa. Mouse GSTT1 mRNA is induced in liver by phenobarbital, but not by butylated hydroxyanisole, β-napthoflavone or isosafrole. The structure of mouse GSTT1 is conserved with that of the subfamily 2 Theta class GST genes mouse GSTT2 and rat GSTT2, comprising five exons interrupted by four introns. The mouse GSTT1 gene was found, by in situ hybridization, to be clustered with mouse GSTT2 on chromosome 10 at bands B5–C1. This region is syntenic with the location of the human Theta class GSTs clustered on chromosome 22q11.2. Similarity searches of a mouse-expressed sequence tag database suggest that there may be two additional members of the Theta class that share 70% and 88% protein sequence identity with mouse GSTT1, but less than 55% sequence identity with mouse GSTT2.

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Chromosomal localization of ZFX—A human gene that escapes X inactivation—and its murine homologs

Cited by 46 publications

References 38 publications

Copy Number Variants for Schizophrenia and Related Psychotic Disorders in Oceanic Palau: Risk and Transmission in Extended Pedigrees

Copy Number Variants for Schizophrenia and Related Psychotic Disorders in Oceanic Palau: Risk and Transmission in Extended Pedigrees

Caspase-2 deficiency prevents programmed germ cell death resulting from cytokine insufficiency but not meiotic defects caused by loss of ataxia telangiectasia-mutated (Atm) gene function

Gene structure, expression and chromosomal localization of murine Theta class glutathione transferase mGSTT1-1

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