Literature DB >> 1427773

Mapping of the human COL5A1 gene to chromosome 9q34.3.

G Caridi1, A Pezzolo, R Bertelli, G Gimelli, A Di Donato, G Candiano, G M Ghiggeri.   

Abstract

A 353-bp region encoding for the NH2 terminus of the noncollagenic part of the alpha 1(V) chain was amplified by the polymerase chain reaction (PCR), subcloned and sequenced. The subcloned PCR product (pGC1) presented the same nucleotide sequence as the original fragment from the published sequence of COL5A1. In situ hybridization, using pGC1 as a probe, mapped the COL5A1 gene to chromosome 9q34.3. This assignment shows that COL5A1 is not synthetic with COL5A2, which is localized together with other collagen genes on chromosome 2.

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Year:  1992        PMID: 1427773     DOI: 10.1007/bf00210769

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  11 in total

1.  Complete primary structure of human collagen alpha 1 (V) chain.

Authors:  K Takahara; Y Sato; K Okazawa; N Okamoto; A Noda; Y Yaoi; I Kato
Journal:  J Biol Chem       Date:  1991-07-15       Impact factor: 5.157

Review 2.  The family of collagen genes.

Authors:  E Vuorio; B de Crombrugghe
Journal:  Annu Rev Biochem       Date:  1990       Impact factor: 23.643

Review 3.  The collagens: an overview and update.

Authors:  E J Miller; S Gay
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

4.  Amino-terminal propeptide of human pro-alpha 2(V) collagen conforms to the structural criteria of a fibrillar procollagen molecule.

Authors:  D Woodbury; V Benson-Chanda; F Ramirez
Journal:  J Biol Chem       Date:  1989-02-15       Impact factor: 5.157

5.  Characterization of banding patterns of metaphase-prophase G-banded chromosomes and their use in gene mapping.

Authors:  J J Yunis; J R Sawyer; D W Ball
Journal:  Cytogenet Cell Genet       Date:  1978

6.  Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?

Authors:  O Zuffardi; A Caiulo; P Maraschio; R Tupler; E Bianchi; P Amisano; G Beluffi; R Moratti; G Liguri
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

7.  Immunohistochemical localization of extracellular matrix components in human diabetic glomerular lesions.

Authors:  A Nerlich; E Schleicher
Journal:  Am J Pathol       Date:  1991-10       Impact factor: 4.307

8.  Human placenta type V collagens. Evidence for the existence of an alpha 1(V) alpha 2(V) alpha 3(V) collagen molecule.

Authors:  C Niyibizi; P P Fietzek; M van der Rest
Journal:  J Biol Chem       Date:  1984-11-25       Impact factor: 5.157

9.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

10.  Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.

Authors:  D Pinkel; T Straume; J W Gray
Journal:  Proc Natl Acad Sci U S A       Date:  1986-05       Impact factor: 11.205

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  5 in total

1.  A new biallelic DNA polymorphism of the human COL5A1 gene.

Authors:  F Cappa; G Caridi; G Gimelli; G M Ghiggeri
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

2.  An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

Authors:  A C Nicholls; J E Oliver; S McCarron; J B Harrison; D S Greenspan; F M Pope
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

3.  Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene.

Authors:  Umile Giuseppe Longo; Vito Fazio; Maria Luana Poeta; Carla Rabitti; Francesco Franceschi; Nicola Maffulli; Vincenzo Denaro
Journal:  Knee Surg Sports Traumatol Arthrosc       Date:  2009-12-03       Impact factor: 4.342

4.  Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

Authors:  G M Ghiggeri; G Caridi; P Altieri; A Pezzolo; G Gimelli; O Zuffardi
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

5.  Linkage analysis of the nail-patella syndrome.

Authors:  E Campeau; D Watkins; G A Rouleau; R Babul; J A Buchanan; W Meschino; V M Der Kaloustian
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

  5 in total

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