Literature DB >> 2574003

Absence of a single repeat from the coding region of the human involucrin gene leading to RFLP.

M Simon1, M Phillips, H Green, H Stroh, K Glatt, G Burns, S A Latt.   

Abstract

The human involucrin gene has been mapped to the region q21-q22 of chromosome 1. Three of six Utah families examined were polymorphic for a PstI fragment of the involucrin gene. In one individual, the variant PstI fragment was found by DNA sequencing to be missing one of the 39 repeats that make up two-thirds of the coding region.

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Year:  1989        PMID: 2574003      PMCID: PMC1683481     

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


  23 in total

1.  BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes.

Authors:  S A Latt; H F Willard; P S Gerald
Journal:  Chromosoma       Date:  1976-08-17       Impact factor: 4.316

2.  The cornified envelope of terminally differentiated human epidermal keratinocytes consists of cross-linked protein.

Authors:  R H Rice; H Green
Journal:  Cell       Date:  1977-06       Impact factor: 41.582

3.  DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11.

Authors:  A F Scott; J A Phillips; B R Migeon
Journal:  Proc Natl Acad Sci U S A       Date:  1979-09       Impact factor: 11.205

4.  Preparative and analytical purification of DNA from agarose.

Authors:  B Vogelstein; D Gillespie
Journal:  Proc Natl Acad Sci U S A       Date:  1979-02       Impact factor: 11.205

5.  Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.

Authors:  L M Kunkel; U Tantravahi; M Eisenhard; S A Latt
Journal:  Nucleic Acids Res       Date:  1982-03-11       Impact factor: 16.971

6.  "Nonrandom" DNA sequence analysis in bacteriophage M13 by the dideoxy chain-termination method.

Authors:  M Poncz; D Solowiejczyk; M Ballantine; E Schwartz; S Surrey
Journal:  Proc Natl Acad Sci U S A       Date:  1982-07       Impact factor: 11.205

7.  Localization of the human insulin gene to the distal end of the short arm of chromosome 11.

Authors:  M E Harper; A Ullrich; G F Saunders
Journal:  Proc Natl Acad Sci U S A       Date:  1981-07       Impact factor: 11.205

8.  Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization.

Authors:  M E Harper; G F Saunders
Journal:  Chromosoma       Date:  1981       Impact factor: 4.316

9.  Human lysosomal genes: arylsulfatase A and beta-galactosidase.

Authors:  G A Bruns; B J Mintz; A C Leary; V M Regina; P S Gerald
Journal:  Biochem Genet       Date:  1979-12       Impact factor: 1.890

10.  The involucrin gene of the orangutan: generation of the late region as an evolutionary trend in the hominoids.

Authors:  P Djian; H Green
Journal:  Mol Biol Evol       Date:  1989-09       Impact factor: 16.240

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  9 in total

1.  Ancient origin of the gene encoding involucrin, a precursor of the cross-linked envelope of epidermis and related epithelia.

Authors:  Amandine Vanhoutteghem; Philippe Djian; Howard Green
Journal:  Proc Natl Acad Sci U S A       Date:  2008-09-22       Impact factor: 11.205

2.  Decreased expression of filaggrin in atopic skin.

Authors:  T Seguchi; C Y Cui; S Kusuda; M Takahashi; K Aisu; T Tezuka
Journal:  Arch Dermatol Res       Date:  1996-07       Impact factor: 3.017

3.  Origin of the polymorphism of the involucrin gene in Asians.

Authors:  P Djian; B Delhomme; H Green
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

Review 4.  Recent evolution of the human skin barrier.

Authors:  Erin A Brettmann; Cristina de Guzman Strong
Journal:  Exp Dermatol       Date:  2018-06-28       Impact factor: 3.960

5.  Tissue- and stratum-specific expression of the human involucrin promoter in transgenic mice.

Authors:  J M Carroll; K M Albers; J A Garlick; R Harrington; L B Taichman
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-01       Impact factor: 11.205

6.  Assignment of the human CRABP-II gene to chromosome 1q21 by nonisotopic in situ hybridization.

Authors:  J T Elder; A Aström; U Pettersson; J J Voorhees; J M Trent
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

7.  Tandem-repeat internal mapping (TRIM) of the involucrin gene: repeat number and repeat-pattern polymorphism within a coding region in human populations.

Authors:  A Urquhart; P Gill
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

8.  Selective sweep for an enhancer involucrin allele identifies skin barrier adaptation out of Africa.

Authors:  Mary Elizabeth Mathyer; Erin A Brettmann; Alina D Schmidt; Zane A Goodwin; Inez Y Oh; Ashley M Quiggle; Eric Tycksen; Natasha Ramakrishnan; Scot J Matkovich; Emma Guttman-Yassky; John R Edwards; Cristina de Guzman Strong
Journal:  Nat Commun       Date:  2021-05-07       Impact factor: 14.919

9.  Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin in the hair follicle.

Authors:  M J Fietz; C J McLaughlan; M T Campbell; G E Rogers
Journal:  J Cell Biol       Date:  1993-05       Impact factor: 10.539

  9 in total

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