Human Homolog of patched , a Candidate Gene for the Basal Cell Nevus Syndrome
Tóm tắt
The basal cell nevus syndrome (BCNS) is characterized by developmental abnormalities and by the postnatal occurrence of cancers, especially basal cell carcinomas (BCCs), the most common human cancer. Heritable mutations in BCNS patients and a somatic mutation in a sporadic BCC were identified in a human homolog of the
Từ khóa
Tài liệu tham khảo
BINKLEY G.W., EPITHELIOMA ADENOIDES CYSTICUM - BASAL CELL NEVI, AGENESIS OF THE CORPUS CALLOSUM AND DENTAL CYSTS - A CLINICAL AND AUTOPSY STUDY, AMA ARCHIVES OF DERMATOLOGY AND SYPHILOLOGY 63, 73 (1951).
BITGOOD M.J., Sertoli cell signaling by Desert hedgehog regulates the male germline, CURRENT BIOLOGY 6, 298 (1996).
BITGOOD M.J., HEDGEHOG AND BMP GENES ARE COEXPRESSED AT MANY DIVERSE SITES OF CELL-CELL INTERACTION IN THE MOUSE EMBRYO, DEVELOPMENTAL BIOLOGY 172, 126 (1995).
BONIFAS J.M., PARENTAL ORIGIN OF CHROMOSOME 9Q22.3-Q31 LOST IN BASAL-CELL CARCINOMAS FROM BASAL-CELL NEVUS SYNDROME PATIENTS, HUMAN MOLECULAR GENETICS 3, 447 (1994).
BONIFAS J.M. unpublished data.
BRASH D.E., A ROLE FOR SUNLIGHT IN SKIN-CANCER - UV-INDUCED P53 MUTATIONS IN SQUAMOUS-CELL CARCINOMA, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 88, 10124 (1991).
CAPDEVILA J, SUBCELLULAR-LOCALIZATION OF THE SEGMENT POLARITY PROTEIN PATCHED SUGGESTS AN INTERACTION WITH THE WINGLESS RECEPTION COMPLEX IN DROSOPHILA EMBRYOS, DEVELOPMENT 120, 987 (1994).
CHANG D.T., PRODUCTS, GENETIC-LINKAGE AND LIMB PATTERNING ACTIVITY OF A MURINE HEDGEHOG GENE, DEVELOPMENT 120, 3339 (1994).
CHEN H, KERATIN-14 GENE-MUTATIONS IN PATIENTS WITH EPIDERMOLYSIS-BULLOSA SIMPLEX, JOURNAL OF INVESTIGATIVE DERMATOLOGY 105, 629 (1995).
CHENEVIXTRENCH G, FURTHER LOCALIZATION OF THE GENE FOR NEVOID BASAL-CELL CARCINOMA SYNDROME (NBCCS) IN 15 AUSTRALASIAN FAMILIES - LINKAGE AND LOSS OF HETEROZYGOSITY, AMERICAN JOURNAL OF HUMAN GENETICS 53, 760 (1993).
COLLINS F.S., POSITIONAL CLONING MOVES FROM PERDITIONAL TO TRADITIONAL, NATURE GENETICS 9, 347 (1995).
ECHELARD Y, SONIC-HEDGEHOG, A MEMBER OF A FAMILY OF PUTATIVE SIGNALING MOLECULES, IS IMPLICATED IN THE REGULATION OF CNS POLARITY, CELL 75, 1417 (1993).
FAN C.M., PATTERNING OF MAMMALIAN SOMITES BY SURFACE ECTODERM AND NOTOCHORD - EVIDENCE FOR SCLEROTOME INDUCTION BY A HEDGEHOG HOMOLOG, CELL 79, 1175 (1994).
FAN C.M., LONG-RANGE SCLEROTOME INDUCTION BY SONIC HEDGEHOG - DIRECT ROLE OF THE AMINO-TERMINAL CLEAVAGE PRODUCT AND MODULATION BY THE CYCLIC-AMP SIGNALING PATHWAY, CELL 81, 457 (1995).
FARNDON P.A., ANALYSIS OF 133 MEIOSES PLACES THE GENES FOR NEVOID BASAL-CELL CARCINOMA (GORLIN)-SYNDROME AND FANCONI-ANEMIA GROUP-C IN A 2.6-CM INTERVAL AND CONTRIBUTES TO THE FINE MAP OF 9Q22.3, GENOMICS 23, 486 (1994).
FELSENFELD A.L., POSITIONAL SIGNALING BY HEDGEHOG IN DROSOPHILA IMAGINAL DISC DEVELOPMENT, DEVELOPMENT 121, 1 (1995).
FORBES A.J., GENETIC-ANALYSIS OF HEDGEHOG SIGNALING IN THE DROSOPHILA EMBRYO, DEVELOPMENT: 115 (1993).
GAILANI M.R., DEVELOPMENTAL DEFECTS IN GORLIN SYNDROME RELATED TO A PUTATIVE TUMOR SUPPRESSOR GENE ON CHROMOSOME-9, CELL 69, 111 (1992).
GOODRICH L.V., Conservation of the hedgehog/patched signaling pathway from flies to mice: Induction of a mouse patched gene by Hedgehog, GENES & DEVELOPMENT 10, 301 (1996).
GORLIN R.J., MULTIPLE NEVOID BASAL-CELL EPITHELIOMA, JAW CYSTS AND BIFID RIB - A SYNDROME, NEW ENGLAND JOURNAL OF MEDICINE 262, 908 (1960).
GU Y, THE T(4–11) CHROMOSOME-TRANSLOCATION OF HUMAN ACUTE LEUKEMIAS FUSES THE ALL-1 GENE, RELATED TO DROSOPHILA-TRITHORAX, TO THE AF-4 GENE, CELL 71, 701 (1992).
HABUCHI T, INCOGENE 11, 1671 (1995).
HAHN S.A., DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1, SCIENCE 271, 350 (1996).
HOOPER J.E., THE DROSOPHILA PATCHED GENE ENCODES A PUTATIVE MEMBRANE-PROTEIN REQUIRED FOR SEGMENTAL PATTERNING, CELL 59, 751 (1989).
HOWELL J.B., THE BASAL-CELL NEVUS - ITS RELATIONSHIP TO MULTIPLE CUTANEOUS CANCERS AND ASSOCIATED ANOMALIES OF DEVELOPMENT, ARCHIVES OF DERMATOLOGY 79, 67 (1959).
HOWELL J.B., NEVOID BASAL-CELL CARCINOMA SYNDROME - PROFILE OF GENETIC AND ENVIRONMENTAL-FACTORS IN ONCOGENESIS, JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY 11, 98 (1984).
HUI C.C., EXPRESSION OF 3 MOUSE HOMOLOGS OF THE DROSOPHILA SEGMENT POLARITY GENE CUBITUS-INTERRUPTUS, GLI, GLI-2, AND GLI-3, IN ECTODERM-DERIVED AND MESODERM-DERIVED TISSUES SUGGESTS MULTIPLE ROLES DURING POSTIMPLANTATION DEVELOPMENT, DEVELOPMENTAL BIOLOGY 162, 402 (1994).
INGHAM P.W., QUANTITATIVE EFFECTS OF HEDGEHOG AND DECAPENTAPLEGIC ACTIVITY ON THE PATTERNING OF THE DROSOPHILA WING, CURRENT BIOLOGY 5, 432 (1995).
JOHNSON R.L., patched overexpression alters wing disc size and pattern: Transcriptional and post-transcriptional effects on hedgehog targets, DEVELOPMENT 121, 4161 (1995).
JOHNSON R.L. unpublished data.
KINZLER K.W., THE GLI GENE ENCODES A NUCLEAR-PROTEIN WHICH BINDS SPECIFIC SEQUENCES IN THE HUMAN GENOME, MOLECULAR AND CELLULAR BIOLOGY 10, 634 (1990).
KINZLER K.W., THE GLI GENE IS A MEMBER OF THE KRUPPEL FAMILY OF ZINC FINGER PROTEINS, NATURE 332, 371 (1988).
KINZLER K.W., IDENTIFICATION OF AN AMPLIFIED, HIGHLY EXPRESSED GENE IN A HUMAN GLIOMA, SCIENCE 236, 70 (1987).
KOJIMA T, INDUCTION OF A MIRROR-IMAGE DUPLICATION OF ANTERIOR WING STRUCTURES BY LOCALIZED HEDGEHOG EXPRESSION IN THE ANTERIOR COMPARTMENT OF DROSOPHILA-MELANOGASTER WING IMAGINAL DISKS, GENE 148, 211 (1994).
KRAUSS S, A FUNCTIONALLY CONSERVED HOMOLOGY OF THE DROSOPHILA SEGMENT POLARITY GENE-HH IS EXPRESSED IN TISSUES WITH POLARIZING ACTIVITY IN ZEBRAFISH EMBRYOS, CELL 75, 1431 (1993).
LAUFER E, SONIC HEDGEHOG AND FGF-4 ACT THROUGH A SIGNALING CASCADE AND FEEDBACK LOOP TO INTEGRATE GROWTH AND PATTERNING OF THE DEVELOPING LIMB BUD, CELL 79, 993 (1994).
MARIGO V, Conservation in hedgehog signaling: Induction of a chicken patched homolog by Sonic hedgehog in the developing limb, DEVELOPMENT 122, 1225 (1996).
MARIGO V, CLONING, EXPRESSION, AND CHROMOSOMAL LOCATION OF SHH AND IHH - 2 HUMAN HOMOLOGS OF THE DROSOPHILA SEGMENT POLARITY GENE HEDGEHOG, GENOMICS 28, 44 (1995).
MILLER D.L., NONMELANOMA SKIN-CANCER IN THE UNITED-STATES - INCIDENCE, JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY 30, 774 (1994).
MORRIS D.J., A YAC CONTIG SPANNING THE NEVOID NASAL CELL-CARCINOMA-SYNDROME, FANCONI-ANEMIA GROUP-C, AND XERODERMA-PIGMENTOSUM GROUP-A LOCI ON CHROMOSOME-9Q, GENOMICS 23, 23 (1994).
MUNSTERBERG A.E., COMBINATORIAL SIGNALING BY SONIC HEDGEHOG AND WNT FAMILY MEMBERS INDUCES MYOGENIC BHLH GENE-EXPRESSION IN THE SOMITE, GENES & DEVELOPMENT 9, 2911 (1995).
NOURSE J, CHROMOSOMAL TRANSLOCATION-T(1–19) RESULTS IN SYNTHESIS OF A HOMEOBOX FUSION MESSENGER-RNA THAT CODES FOR A POTENTIAL CHIMERIC TRANSCRIPTION FACTOR, CELL 60, 535 (1990).
NUSSLEINVOLHARD C, MUTATIONS AFFECTING SEGMENT NUMBER AND POLARITY IN DROSOPHILA, NATURE 287, 795 (1980).
RIJSEWIJK F, THE DROSOPHILA HOMOLOG OF THE MOUSE MAMMARY ONCOGENE INT-1 IS IDENTICAL TO THE SEGMENT POLARITY GENE WINGLESS, CELL 50, 649 (1987).
RILEY J, A NOVEL, RAPID METHOD FOR THE ISOLATION OF TERMINAL SEQUENCES FROM YEAST ARTIFICIAL CHROMOSOME (YAC) CLONES, NUCLEIC ACIDS RESEARCH 18, 2887 (1990).
ROBERTS D.J., SONIC HEDGEHOG IS AN ENDODERMAL SIGNAL INDUCING BMP-4 AND HOX GENES DURING INDUCTION AND REGIONALIZATION OF THE CHICK HINDGUT, DEVELOPMENT 121, 3163 (1995).
ROELINK H, FLOOR PLATE AND MOTOR-NEURON INDUCTION BY VHH-1, A VERTEBRATE HOMOLOG OF HEDGEHOG EXPRESSED BY THE NOTOCHORD, CELL 76, 761 (1994).
ROELINK H, FLOOR PLATE AND MOTOR-NEURON INDUCTION BY DIFFERENT CONCENTRATIONS OF THE AMINO-TERMINAL CLEAVAGE PRODUCT OF SONIC HEDGEHOG AUTOPROTEOLYSIS, CELL 81, 445 (1995).
RUPPERT J.M., THE GLI-KRUPPEL FAMILY OF HUMAN GENES, MOLECULAR AND CELLULAR BIOLOGY 8, 3104 (1988).
SAMPEDRO J, UNRESTRICTED EXPRESSION OF THE DROSOPHILA GENE PATCHED ALLOWS A NORMAL SEGMENT POLARITY, NATURE 353, 187 (1991).
SLUSARSKI D.C., MUTATIONS THAT ALTER THE TIMING AND PATTERN OF CUBITUS INTERRUPTUS GENE-EXPRESSION IN DROSOPHILA-MELANOGASTER, GENETICS 139, 229 (1995).
TANABE Y, INDUCTION OF MOTOR-NEURONS BY SONIC HEDGEHOG IS INDEPENDENT OF FLOOR PLATE DIFFERENTIATION, CURRENT BIOLOGY 5, 651 (1995).
TKACHUK D.C., INVOLVEMENT OF A HOMOLOG OF DROSOPHILA-TRITHORAX BY 11Q23 CHROMOSOMAL TRANSLOCATIONS IN ACUTE LEUKEMIAS, CELL 71, 691 (1992).
WICKING C, FINE GENETIC-MAPPING OF THE GENE FOR NEVOID BASAL-CELL CARCINOMA SYNDROME, GENOMICS 22, 505 (1994).
XIE J unpublished data.