In vivo reversion to normal of inherited mutations in humans

被引：143

作者：

Hirschhorn, R ^{[1
]}

机构：

[1] NYU, Sch Med, New York, NY 10016 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 10期

关键词：

D O I：

10.1136/jmg.40.10.721

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

There are increasing reports of multiple different types of somatic mosaicism detected in patients with inherited and non-inherited disorders. The characteristics of several of the major types of mosaicism will be outlined, and contrasted with somatic mosaicism, which is the focus of this article. This review examines examples of somatic mosaicism due to differences in DNA sequence arising from in vivo site specific reversion to normal of inherited mutations in humans. While several known mechanisms of reversion are evident in a number of these examples, they are not in some others. The possible significance of the role of selection, particularly in view of recent results of gene therapy, is discussed.

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页码：721 / 728

页数：8

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共 55 条

[1] Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning [J].

Aiuti, A ;

Slavin, S ;

Aker, M ;

Ficara, F ;

Deola, S ;

Mortellaro, A ;

Morecki, S ;

Andolfi, G ;

Tabucchi, A ;

Carlucci, F ;

Marinello, E ;

Cattaneo, F ;

Vai, S ;

Servida, P ;

Miniero, R ;

Roncarolo, MG ;

Bordignon, C .

SCIENCE, 2002, 296 (5577) :2410-2413

[2] Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement [J].

Aiuti, A ;

Vai, S ;

Mortellaro, A ;

Casorati, G ;

Ficara, F ;

Andolfi, G ;

Ferrari, G ;

Tabucchi, A ;

Carlucci, F ;

Ochs, HD ;

Notarangelo, LD ;

Roncarolo, MG ;

Bordignon, C .

NATURE MEDICINE, 2002, 8 (05) :423-425

[3] A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: An additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes [J].

Ariga, T ;

Yamada, M ;

Sakiyama, Y ;

Tatsuzawa, O .

BLOOD, 1998, 92 (02) :699-701

[4] T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation [J].

Ariga, T ;

Oda, N ;

Yamaguchi, K ;

Kawamura, N ;

Kikuta, H ;

Taniuchi, S ;

Kobayashi, Y ;

Terada, K ;

Ikeda, H ;

Hershfield, MS ;

Kobayashi, K ;

Sakiyama, Y .

BLOOD, 2001, 97 (09) :2896-2899

[5] Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome [J].

Ariga, T ;

Kondoh, T ;

Yamaguchi, K ;

Yamada, M ;

Sasaki, S ;

Nelson, DL ;

Ikeda, H ;

Kobayashi, K ;

Moriuchi, H ;

Sakiyama, Y .

JOURNAL OF IMMUNOLOGY, 2001, 166 (08) :5245-5249

[6] Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy [J].

Arredondo-Vega, FX ;

Santisteban, I ;

Richard, E ;

Bali, P ;

Koleilat, M ;

Loubser, M ;

Al-Ghonaium, A ;

Al-Helali, M ;

Hershfield, MS .

BLOOD, 2002, 99 (03) :1005-1013

[7] Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor [J].

Bousso, P ;

Wahn, V ;

Douagi, I ;

Horneff, G ;

Pannetier, C ;

Le Deist, F ;

Zepp, F ;

Niehues, T ;

Kourilsky, P ;

Fischer, A ;

de Saint Basile, G .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (01) :274-278

[8] Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease [J].

Cavazzana-Calvo, M ;

Hacein-Bey, S ;

Basile, CD ;

Gross, F ;

Yvon, E ;

Nusbaum, P ;

Selz, F ;

Hue, C ;

Certain, S ;

Casanova, JL ;

Bousso, P ;

Le Deist, F ;

Fischer, A .

SCIENCE, 2000, 288 (5466) :669-672

[9] Revertant mosaicism:: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation [J].

Darling, TN ;

Yee, C ;

Bauer, JW ;

Hintner, H ;

Yancey, KB .

JOURNAL OF CLINICAL INVESTIGATION, 1999, 103 (10) :1371-1377

[10] LONG-TERM CULTURE AND T-CELL RECEPTOR ANALYSIS OF T-CELL CLONES ISOLATED FROM A PATIENT WITH ADENOSINE-DEAMINASE DEFICIENCY AND TYPE-I DIABETES [J].

DEBERARDINIS, P ;

OMBRA, MN ;

BUONO, C ;

TORALDO, R ;

VETRANO, F ;

GUARDIOLA, J .

CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY, 1994, 73 (03) :362-366

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