Literature DB >> 1676701

The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.

C A Francomano1, G R Cutting, M K McCormick, M L Chu, R Timpl, H K Hong, S E Antonarakis.   

Abstract

The genes that encode the alpha 1 (VI) and alpha 2 (VI) collagen chains, designated COL6A1 and COL6A2, map to human chromosomal band 21q22.3. Using pulsed-field gel electrophoresis and somatic cell hybrids, we found that COL6A1 and COL6A2 form a gene cluster on the most distal part of chromosome 21. Furthermore, we detected several DNA polymorphisms (both restriction site and VNTRs) associated with these loci. These polymorphisms make the COL6A1 and COL6A2 genes among the most informative markers on human chromosome 21.

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Year:  1991        PMID： 1676701     DOI： 10.1007/bf00204174

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


  18 in total

1.  Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2.

Authors:  G R Cutting; M J McGinniss; L M Kasch; P Tsipouras; S E Antonarakis
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736

2.  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

3.  Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.

Authors:  M L Van Keuren; P C Watkins; H A Drabkin; E W Jabs; J F Gusella; D Patterson
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

4.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

5.  The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region.

Authors:  R Soininen; M Huotari; S L Hostikka; D J Prockop; K Tryggvason
Journal:  J Biol Chem       Date:  1988-11-25       Impact factor: 5.157

6.  Alpha 1(IV) and alpha 2(IV) collagen genes are regulated by a bidirectional promoter and a shared enhancer.

Authors:  P D Burbelo; G R Martin; Y Yamada
Journal:  Proc Natl Acad Sci U S A       Date:  1988-12       Impact factor: 11.205

7.  Separation of large DNA molecules by contour-clamped homogeneous electric fields.

Authors:  G Chu; D Vollrath; R W Davis
Journal:  Science       Date:  1986-12-19       Impact factor: 47.728

8.  Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.

Authors:  P Tsipouras; R C Schwartz; A C Liddell; C S Salkeld; D Weil; F Ramirez
Journal:  Genomics       Date:  1988-10       Impact factor: 5.736

9.  Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34.

Authors:  G R Cutting; H H Kazazian; S E Antonarakis; P D Killen; Y Yamada; C A Francomano
Journal:  Genomics       Date:  1988-10       Impact factor: 5.736

10.  Separation of chromosomal DNA molecules from yeast by orthogonal-field-alternation gel electrophoresis.

Authors:  G F Carle; M V Olson
Journal:  Nucleic Acids Res       Date:  1984-07-25       Impact factor: 16.971
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  7 in total

Review 1.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

2.  Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects.

Authors:  G E Davies; C M Howard; M J Farrer; M M Coleman; L M Cullen; R Williamson; R K Wyse; A M Kessling
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

3.  Distribution of extracellular matrix components in nuchal skin from fetuses carrying trisomy 18 and trisomy 21.

Authors:  B Brand-Saberi; H H Epperlein; G E Romanos; B Christ
Journal:  Cell Tissue Res       Date:  1994-09       Impact factor: 5.249

4.  Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect.

Authors:  C M Howard; G E Davies; M J Farrer; L M Cullen; M M Coleman; R Williamson; R K Wyse; R Palmer; A M Kessling
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

5.  Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.

Authors:  S B Cassidy; L W Lai; R P Erickson; L Magnuson; E Thomas; R Gendron; J Herrmann
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

6.  Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome.

Authors:  G E Davies; C M Howard; L M Gorman; M J Farrer; A J Holland; R Williamson; A M Kessling
Journal:  Hum Genet       Date:  1993-01       Impact factor: 4.132

7.  Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669.

Authors:  Arpita Dey; Krishnendu Bhowmik; Arpita Chatterjee; Pit Baran Chakrabarty; Swagata Sinha; Kanchan Mukhopadhyay
Journal:  Front Genet       Date:  2013-04-22       Impact factor: 4.599
  7 in total

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