Literature DB >> 3146546

Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.

D E Barton1, B S Kwon, U Francke.   

Abstract

The enzyme tyrosinase (monophenol,L-dopa:oxygen oxidoreductase; EC 1.14.18.1) catalyzes the first two steps in the conversion of tyrosine to melanin, the major pigment found in melanocytes. Some forms of oculocutaneous albinism, characterized by the absence of melanin in skin and eyes and by a deficiency of tyrosinase activity, may result from mutations in the tyrosinase structural gene. A recently isolated human tyrosinase cDNA was used to map the human tyrosinase locus (TYR) to chromosome 11, region q14----q21, by Southern blot analysis of somatic cell hybrid DNA and by in situ chromosomal hybridization. A second site of tyrosinase-related sequences was detected on the short arm of chromosome 11 near the centromere (p11.2----cen). Furthermore, we have confirmed the localization of the tyrosinase gene in the mouse at or near the c locus on chromosome 7. Comparison of the genetic maps of human chromosome 11 and mouse chromosome 7 leads to hypotheses regarding the evolution of human chromosome 11.

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Year:  1988        PMID: 3146546     DOI: 10.1016/0888-7543(88)90153-x

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  37 in total

1.  Molecular cloning and expression analysis of tyrosinase gene in the skin of Jining Gray Goat (Capra hircus).

Authors:  Weiyun Chen; Hui Wang; Bin Dong; Zhongdian Dong; Fenna Zhou; Yong Fu; Yongqing Zeng
Journal:  Mol Cell Biochem       Date:  2012-03-10       Impact factor: 3.396

Review 2.  Sequences associated with human iris pigmentation.

Authors:  Tony Frudakis; Matthew Thomas; Zach Gaskin; K Venkateswarlu; K Suresh Chandra; Siva Ginjupalli; Sitaram Gunturi; Sivamani Natrajan; Viswanathan K Ponnuswamy; K N Ponnuswamy
Journal:  Genetics       Date:  2003-12       Impact factor: 4.562

Review 3.  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

4.  Genetic mapping of the human tryptophan hydroxylase gene on chromosome 11, using an intronic conformational polymorphism.

Authors:  D A Nielsen; M Dean; D Goldman
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

Review 5.  Mouse chromosome 7.

Authors:  E M Rinchik; T Magnuson; B Holdener-Kenny; G Kelsey; A Bianchi; C J Conti; F Chartier; K A Brown; S D Brown; J Peters
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

6.  Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.

Authors:  P Manga; J G Kromberg; N F Box; R A Sturm; T Jenkins; M Ramsay
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

7.  A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

Authors:  C D Chintamaneni; R Halaban; Y Kobayashi; C J Witkop; B S Kwon
Journal:  Proc Natl Acad Sci U S A       Date:  1991-06-15       Impact factor: 11.205

8.  Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".

Authors:  R E Boissy; H Zhao; W S Oetting; L M Austin; S C Wildenberg; Y L Boissy; Y Zhao; R A Sturm; V J Hearing; R A King; J J Nordlund
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

9.  A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.

Authors:  L B Giebel; M A Musarella; R A Spritz
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

10.  Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene.

Authors:  K Yasumoto; K Yokoyama; K Shibata; Y Tomita; S Shibahara
Journal:  Mol Cell Biol       Date:  1994-12       Impact factor: 4.272

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