Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2.

Emanuel, Beverly S.; Cannizzaro, Linda A.; Seyer, Jerome M.; Myers, Jeanne C.

doi:10.1073/pnas.82.10.3385

Cited by 64 publications

(31 citation statements)

References 42 publications

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“…Results in Fig. 3 also establish a regional localization of the TCL4 locus on chromosome 2, since hybrids retaining only 2p (CSK-12 and J14-2) are negative for the TCL4 probes, whereas hybrid PB5 is positive; hybrid PB5 does not retain the HOX4 locus or the COL3AJ gene, both of which have been mapped to the distal long arm of chromosome 2 (19,25). Thus, we conclude from analysis of somatic cell hybrids that the TCL4 locus is on the long arm of chromosome 2, centromeric to the HOX4 and COL3AJ loci.…”

Section: Myc Rearrangement In Hut 78mentioning

confidence: 58%

Chromosomal translocation in T-cell leukemia line HUT 78 results in a MYC fusion transcript.

Finger

Huebner

Cannizzaro

et al. 1988

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

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Primary cultures and established cell lines derived from human T-cell leukemias were analyzed for genomic rearrangements in the region 3' of the MYC locus. A T-cell leukemia line, HUT 78, whose 3' MYC region is rearranged, carries a chromosome t(2;8) juxtaposition; i.e., a locus derived from chromosome region 2q34 is attached to the 3' end of one MYC allele. The t(2;8) rearrangement in the HUT 78 cell line results in expression of a fused transcript encompassing the MYC gene and a locus designated TCL4 (T-cell leukemia/lymphoma 4), which normally resides on chromosome 2. The steady-state level of MYC-TCL4 fusion transcripts in HUT 78 cells is significantly higher than the MYC RNA level found in several other B-and T-cell lines. The production of fused MYC-TCL4 transcripts in a leukemic cell line raises the possibility that other B-and T-cell leukemias may express MYC fusion transcripts as an integral step in their pathogenesis.

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Section: Myc Rearrangement In Hut 78mentioning

confidence: 58%

Chromosomal translocation in T-cell leukemia line HUT 78 results in a MYC fusion transcript.

Finger

Huebner

Cannizzaro

et al. 1988

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

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“…Preliminary results from 26 previously reported metaphases (17) are included in the results for GM6229. In the two constitutional t(11;22) carriers GM6229 and HD, pCX hybridized to its normal site on chromosome 22 and also to the iiq+ chromosome, with no significant hybridization to the 22q-(derivative chromosome 22). In contrast to the results for the constitutional t(11;22) and similar to previously reported results for the tumor-related rearrangement (17), the pCX probe hybridized to both the normal and derivative chromosomes 22 in the ES cell line ML, with an additional large percentage ofgrains on G-group chromosomes, which, due to limited technical quality, could not be identified absolutely in some metaphases.…”

Section: Resultsmentioning

confidence: 99%

“…3H-labeling of DNA and in situ hybridization were performed by using a protocol modified from several in the literature that has been described in detail (22). Concentrations of probe DNA used were 0.035-0.11 ,ig/ml.…”

Section: Methodsmentioning

confidence: 99%

“…Recurrent rearrangements involving chromosome 22 have been described both in the constitutional karyotype and as acquired somatic abnormalities in neoplastic diseases (1,2). The breakpoints of the t(9;22) of chronic myelogenous leukemia, the t(9;22) of acute lymphocytic leukemia, and the t(8;22) of Burkitt lymphoma within 22q11 are cytologically indistinguishable.…”

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confidence: 99%

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Comparison of constitutional and tumor-associated 11;22 translocations: nonidentical breakpoints on chromosomes 11 and 22.

Griffin¹,

McKeon²,

Israel³

et al. 1986

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

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Recurring, site-specific chromosomal rearrangements are associated with several human syndromes and malignant disorders. Such nonrandom translocations involving chromosome 22 in band qil are numerous and found to be associated with a diversity ofneoplasms as well as constitutional disorders. Chromosome 11 in bands q23-q24 is similarly involved in several types of tumors as well as in a recurring constitutional reciprocal translocation with chromosome 22. Here we report the use of chromosomal in situ hybridization to compare the translocation breakpoints in the cytologically indistinguishable constitutional t(l1122) and the tumor-related t(l;22) associated with Ewing sarcoma and peripheral neuroepithelioma. We have shown that the breakpoints can be distinguished from each other with iespect to the locus encoding the constant region of the Ig A light chain (Co) at 22q11 and the ETSI locus at 1lq23--q24; ETSI has been called hu-ets-l or human cgets-l. The tumor-associated chromosome 11 breakpoint is also different from those of leukemias with t(9;11) and t(4;11) translocations, Southern-blot analysis showed no rearrangement ofETSI in these disorders in the region detected by our probe. ETSI has also been mapped more precisely to 11q23.3-+q24 by in situ hybridization to cells from an individual with an 11q23.3--qter deletion.Site-specific chromosome rearrangements are associated with both malignant and nonmalignant human disorders. Recurrent rearrangements involving chromosome 22 have been described both in the constitutional karyotype and as acquired somatic abnormalities in neoplastic diseases (1, 2). The breakpoints of the t(9;22) of chronic myelogenous leukemia, the t(9;22) of acute lymphocytic leukemia, and the t(8;22) of Burkitt lymphoma within 22q11 are cytologically indistinguishable. Chromosomal in situ hybridization has been used to map these translocation breakpoints more precisely and has shown that, in fact, the 22q11 breakpoints can be distinguished from each other at a molecular level (3,4).Recently, chromosome 22 has been shown to be involved in a reciprocal translocation with chromosome 11, t(11;22)-(q23-q24;qll-q12) in virtually all cases of swing sarcoma (ES) and peripheral neuroepithelioma (NE) examined cytogenetically (5-10). Askin tumor, a malignancy of the thoracopulmonary region, also has been found recently to have an apparently identical t(11;22) (10) and is likely a neuroepithelioma of the chest wall (11, 12). Recurrent rearrangements involving chromosome 11 at q23-q24 have also been reported in leukemias, including the t(4;11)(q21;q23) of acute lymphoblastic or undifferentiated leukemia (13) and the t(9;11)(q21;q23) of acute monocytic leukemia (14).The 11;22 rearrangement of ES, NE, and Askin tumor is cytologically indistinguishable from the recurrent constitutional chromosomal rearrangement that has been described (1), which involves the same chromosomal regions. The constitutional t(11;22)(q23;q11) is a site-specific, reciprocal translocation that has now been described in more ...

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“…El SED tipo vascular, anteriormente conocido como SED tipo IV, es la forma más grave de presentación. Se hereda como rasgo autosómico dominante e involucra deficiencia del colágeno tipo III por mutación del gen COL3A1 cuyo locus se encuentra en el brazo largo del cromosoma 2, en la posición 2q24.3-q31 [6][7][8] . Representa 5%-10% del total de casos de SED, con una prevalencia estimada de 1-2/100.000 habitantes.…”

Section: In the Vascular Type Of Ehlers-danlos Syndrome There Is A Deunclassified

Disección carotídea en paciente con síndrome de Ehlers-Danlos tipo vascular

Contreras

2013

Rev. méd. Chile

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In the vascular type of Ehlers-Danlos syndrome there is a defect in the synthesisE l síndrome de Ehlers-Danlos (SED) es una enfermedad hereditaria asociada a mutación del gen del colágeno, dando origen a distintos subtipos según el gen afectado 1 . La mutación más frecuente es las de los genes COL5A1 y COL5A2 que codifican para el colágeno tipo V 2 . La prevalencia estimada varía entre 1/10.000 y 1/25.000 habitantes 3 . Según la clasificación de Villefranche, se divide en seis subtipos: tipo clásico, tipo hiperlaxitud, tipo vascular, tipo cifoescoliosis, tipo artrocalasia y tipo dermatosparaxis 4 , siendo el tipo hiperlaxitud el más frecuente (80% de los casos) 5 . El SED tipo vascular, anteriormente conocido como SED tipo IV, es la forma más grave de presentación. Se hereda como rasgo autosómico dominante e involucra deficiencia del colágeno tipo III por mutación del gen COL3A1 cuyo locus se encuentra en el brazo largo del cromosoma 2, en la posición 2q24.3-q31 6-8 . Representa 5%-10% del total de casos de SED, con una prevalencia estimada de 1-2/100.000 habitantes. Clínicamente destacan rasgos faciales característicos, como la acrogeria con labios finos, piel delgada, orejas sin lóbulos, nariz puntiaguda, mejillas hundidas y prominentes ojos fijos, además se caracteriza por piel translúcida con vasos subcutáneos visibles, equimosis y hematomas fáciles 9 . Es la forma más peligrosa de SED, ya que presenta graves complicaciones arteriales, digestivas y uterinas. Se afectan principalmente las arterias de diámetro grande y medio 10 . El mayor compromiso vascular es de la aorta torácica y son habituales las disecciones de las arterias vertebrales y carótidas en sus segmentos extra e intracraneal. Los eventos vasculares se presentan habitualmente entre la tercera y cuarta década de la vida. El diagnóstico definitivo se realiza mediante estudio genético o biopsia de piel para cultivo de fibroblastos. No existe un tratamiento específico y se estima que 25% de los pacientes tendrá una complicación antes de los 25 años y más de 80% a los 40 años.Se presenta un caso poco frecuente de sín-drome de Ehlers-Danlos tipo vascular asociado a disección carotidea y se discute la conducta terapéutica. Caso clínicoMujer de 15 años de edad, chilena, con antecedente de síndrome de Ehlers-Danlos tipo vascular diagnosticado mediante estudio genético a los 8 años de edad; consultó por presentar cuadro de 5 días de evolución caracterizado por cefalea intermitente holocránea de intensidad 8/10, debilidad generalizada y parestesias de extremidad superior izquierda, estableciéndose posteriormente una hemiparesia facio braquio crural izquierda asociada a

show abstract

Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2.

Cited by 64 publications

References 42 publications

Chromosomal translocation in T-cell leukemia line HUT 78 results in a MYC fusion transcript.

Chromosomal translocation in T-cell leukemia line HUT 78 results in a MYC fusion transcript.

Comparison of constitutional and tumor-associated 11;22 translocations: nonidentical breakpoints on chromosomes 11 and 22.

Disección carotídea en paciente con síndrome de Ehlers-Danlos tipo vascular

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