A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly‐craniofacial anomalies syndrome

Tommerup, Niels; Nielsen, F. Kissmeyer; Opitz, John M.

doi:10.1002/ajmg.1320160304

Cited by 64 publications

(27 citation statements)

References 19 publications

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“…Another example is in renal cell carcinoma, where both hereditary and spontaneous varieties contain alterations specifically in the 3p14--3p21 region (2)(3)(4)(5). Other chromosome 3 rearrangements include (i) the Greig polysyndactyly craniofacial anomalies syndrome due to a 3;7 translocation, t(3;7)(p21.1;p13), and (ii) both inversions and translocations involving bands 3q21 and 3q26 in acute myelogenous leukemia with megakaryocyte hyperplasia (6,7). Because of the colocalization of oncogenes and sites of chromosomal rearrangement (8), it was of interest to precisely localize the ERBA2 gene on chromosome 3.…”

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confidence: 99%

Localization of human ERBA2 to the 3p22----3p24.1 region of chromosome 3 and variable deletion in small cell lung cancer.

Drabkin

Kao

Hartz

et al. 1988

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

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Human genes homologous to the v-erbA oncogene of avian erythroblastosis virus have been mapped to at least two human chromosomes. Recently, the ERBA2 gene was shown to encode a thyroid hormone receptor and localized to chromosome 3 by using flow-sorted chromosomes. We now demonstrate that this gene is located at 3p22-)3p24.1, using both somatic cell hybrids and in situ hybridization studies. Since this localization is close to the distal border of the small cell lung cancer (SCLC) 3pl4-3p23 deletion, we undertook additional studies to examine the ERBA2 gene in SCLC. Using somatic cell hybrids constructed from the SCLC line NCI-H182 as well as matched patient tumor and control tissue samples, we found that ERBA2 is variably deleted. Therefore, ERBA2 defines at the molecular level the distal border of the SCLC deletion and further implies that the putative suppressor gene is located centromeric of this locus. We also determined that, at least in NCI-H182, the 3pl4 breakpoint is proximal to the constitutive 3pl4.2 fragile site. These studies would indicate that the mechanism or initiation site of chromosomal rearrangement in SCLC is different from that which occurs during induction of the 3pl4 fragile site by aphidicolin. hybrids and in situ hybridization studies. This result suggested that ERBA2 might be useful in the analysis of the SCLC 3pl4-*3p23 deletion. Using SCLC cell lines and direct patient material and isolating a derivative chromosome 3 [der(3)] previously reported to contain a 3p14--3p23 deletion, we conclude that ERBA2 is variably deleted in SCLC samples. At the molecular level, this defines a region that must be telomeric to the critical segment containing a putative suppressor gene. The identification of an Msp I polymorphism should also facilitate genetic linkage studies to this region.The isolation of the der(3) chromosome from cell line NCI-H182 also provided a means to examine the proximal extent of the deletion. We found that the breakpoint is proximal to the common 3pl4.2 fragile site induced by aphidicolin. The fragile site appears to be closely related to the breakpoint in the hereditary renal cell carcinoma 3;8 translocation, t(3;8)(pl4.2;q24.1). Therefore, it would appear that a different initiation site of chromosomal rearrangement is involved in the generation of at least some 3p deletions in SCLC.

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confidence: 99%

Localization of human ERBA2 to the 3p22----3p24.1 region of chromosome 3 and variable deletion in small cell lung cancer.

Drabkin

Kao

Hartz

et al. 1988

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

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“…Subsequently severa1 authors have reported similar families McKusick, 1969. Marshall andSmith 1970;Gnamey and Farriaux, 1971;Hootnick and Holmes, 1972;Duncan et al 1979;Fryns et al, 1981;Merlob et al, 1981;Chudley and Houston, 1982;Kwee and Lindhout, 1983;Tommerup and Nielsen, 1983;Baraitser et al, 1983;Gollop and Fontes, 1985;Pelz et al, 19861. Inheritance is autosomal dominant with complete penetrance but considerable intrafamilial variability [Temtamy and McKusick, 19781.…”

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confidence: 96%

Chromosomal localisation of a developmental gene in man: Direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13

et al. 1988

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Greig cephalopolysyndactyly syndrome (GCPS) is a rare autosomal dominant form of complex polydactyly. GCPS has been tentatively assigned to chromosome 7 on the basis of association of the condition with balanced translocations involving the short arm of chromosome 7 (7p13) in two families. Seven GCPS pedigrees with no chromosome abnormality were studied, and linkage was demonstrated between GCPS and the DNA sequence coding for the receptor for epidermal growth factor (localised to 7p12-13) (Z = 3.17; O = theta).

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“…The syndrome is characterized by preaxial polydactyly of the feet, postaxial polydactyly of the hands, syndactylies of hands and feet, and mild craniofacial abnormalities such as a slight hypertelorism and a high prominent forehead (Greig, 1926). The gene locus for GCPS has been pinpointed to human chromosome 7p13 by different translocations and deletions associated with the syndrome (Tommerup and Nielsen, 1983;Drabkin et al, 1989;Kruger et al, 1989;Pettigrew et al, 1991;Wagner et al, 1990). Using somatic cell hybrid lines from different GCPS translocation patients, we were able to localize the breakpoints to the same NotI restriction fragment (Vortkamp et al, 1991a).…”

Section: Introductionmentioning

confidence: 99%

Isolation of a Yeast Artificial Chromosome Contig Spanning the Greig Cephalopolysyndactyly Syndrome (GCPS) Gene Region

Vortkamp

Gessler²,

Paslier³

et al. 1994

Genomics

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A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly‐craniofacial anomalies syndrome

Cited by 64 publications

References 19 publications

Localization of human ERBA2 to the 3p22----3p24.1 region of chromosome 3 and variable deletion in small cell lung cancer.

Localization of human ERBA2 to the 3p22----3p24.1 region of chromosome 3 and variable deletion in small cell lung cancer.

Chromosomal localisation of a developmental gene in man: Direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13

Isolation of a Yeast Artificial Chromosome Contig Spanning the Greig Cephalopolysyndactyly Syndrome (GCPS) Gene Region

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