Literature DB >> 3840328

Chromosomal localization of the human elastin gene.

B S Emanuel, L Cannizzaro, N Ornstein-Goldstein, Z K Indik, K Yoon, M May, L Oliver, C Boyd, J Rosenbloom.   

Abstract

mRNA isolated from fetal human aorta was used to synthesize cDNA that was cloned into the PstI site of pBR322. The recombinant clones were screened with an authentic sheep elastin cDNA, and one human clone that hybridized strongly was isolated and characterized. The 421-base pair (bp) insert of this human clone was sequenced by the dideoxy method, and the DNA sequence showed strong homology to the nontranslated portion of the sheep elastin cDNA. This result unequivocally identified the human clone, designated pcHEL1, as an elastin clone. Plasmid pcHEL1 labeled with [3H] nucleotides was used in in situ hybridization experiments utilizing normal metaphase chromosomes and also with cells carrying a balanced translocation between chromosomes 1 and 2: 46,XY,t(1;2)(p36;q31). The results strongly suggest that the elastin gene is localized to the q31----qter region of chromosome 2.

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Year:  1985        PMID： 3840328      PMCID： PMC1684702     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  39 in total

1.  Biosynthesis and secretion of tropoelastin by chick aorta cells.

Authors:  J Rosenbloom; A Cywinski
Journal:  Biochem Biophys Res Commun       Date:  1976-04-05       Impact factor: 3.575

2.  Properties of chick tropoelastin.

Authors:  R B Rucker; W Goettlich-Riemann; K Tom
Journal:  Biochim Biophys Acta       Date:  1973-07-12

3.  Isolation and amino acid sequences of tropoelastin peptides.

Authors:  J A Foster; E Bruenger; W R Gray; L B Sandberg
Journal:  J Biol Chem       Date:  1973-04-25       Impact factor: 5.157

4.  Collagen and elastin synthesis in the developing chick aorta.

Authors:  R Eichner; J Rosenbloom
Journal:  Arch Biochem Biophys       Date:  1979-12       Impact factor: 4.013

5.  A versatile primer for DNA sequencing in the M13mp2 cloning system.

Authors:  G Heidecker; J Messing; B Gronenborn
Journal:  Gene       Date:  1980-06       Impact factor: 3.688

6.  Localization of a unique gene by direct hybridization in situ.

Authors:  D S Gerhard; E S Kawasaki; F C Bancroft; P Szabo
Journal:  Proc Natl Acad Sci U S A       Date:  1981-06       Impact factor: 11.205

7.  Correlation of functional elastin messenger ribonucleic acid levels and rate of elastin synthesis in the developing chick aorta.

Authors:  W Burnett; R Eichner; J Rosenbloom
Journal:  Biochemistry       Date:  1980-03-18       Impact factor: 3.162

8.  Primary structure of the signal peptide of tropoelastin b.

Authors:  S R Karr; J A Foster
Journal:  J Biol Chem       Date:  1981-06-25       Impact factor: 5.157

9.  The ovalbumin gene: alleles created by mutations in the intervening sequences of the natural gene.

Authors:  E C Lai; S L Woo; A Dugaiczyk; B W O'Malley
Journal:  Cell       Date:  1979-01       Impact factor: 41.582

10.  Modulation of tropoelastin production and elastin messenger ribonucleic acid activity in developing sheep lung.

Authors:  S U Shibahara; J M Davidson; K Smith; R G Crystal
Journal:  Biochemistry       Date:  1981-11-10       Impact factor: 3.162
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  9 in total

1.  Two polymorphisms for the human elastin gene.

Authors:  K Kainulainen; J Rosenbloom; L Peltonen
Journal:  Nucleic Acids Res       Date:  1990-05-25       Impact factor: 16.971

2.  Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA.

Authors:  Z Indik; H Yeh; N Ornstein-Goldstein; P Sheppard; N Anderson; J C Rosenbloom; L Peltonen; J Rosenbloom
Journal:  Proc Natl Acad Sci U S A       Date:  1987-08       Impact factor: 11.205

3.  Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.

Authors:  D Weil; M G Mattei; E Passage; V C N'Guyen; D Pribula-Conway; K Mann; R Deutzmann; R Timpl; M L Chu
Journal:  Am J Hum Genet       Date:  1988-03       Impact factor: 11.025

4.  An RFLP in the gene for the human pro-alpha 2 chain of type V collagen (COL5A2).

Authors:  R C Schwartz; A Liddell; F Ramirez; P Tsipouras
Journal:  Nucleic Acids Res       Date:  1988-06-10       Impact factor: 16.971

5.  Localization of the villin gene on human chromosome 2q35-q36 and on mouse chromosome 1.

Authors:  M F Rousseau-Merck; D Simon-Chazottes; M Arpin; E Pringault; D Louvard; J L Guénet; R Berger
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

6.  Human elastin gene: new evidence for localization to the long arm of chromosome 7.

Authors:  M J Fazio; M G Mattei; E Passage; M L Chu; D Black; E Solomon; J M Davidson; J Uitto
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

7.  Congenital cutis laxa with retardation of growth and development.

Authors:  M A Patton; J Tolmie; P Ruthnum; S Bamforth; M Baraitser; M Pembrey
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

8.  Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2.

Authors:  K Kainulainen; A Savolainen; A Palotie; I Kaitila; J Rosenbloom; L Peltonen
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

9.  Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis.

Authors:  Cuilan Hou; Junmin Zheng; Wei Liu; Lijian Xie; Xiaomin Sun; Yongwei Zhang; Meng Xu; Yun Li; Tingting Xiao
Journal:  Sci Rep       Date:  2021-07-08       Impact factor: 4.379
  9 in total

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