Literature DB >> 1124765

Half chromatid mutations: transmission in humans?

S M Gartler, U Francke.   

Abstract

Attention is drawn to the possibility of half chromatid and early somatic mutations and to several implications of these mosaic-yielding events. There is suggestive evidence that spontaneous mutations can result in mosaics. A world-wide cooperative study of Lesch-Nyhan families could determine the extent of half chromatid mutation transmission and early somatic mutation in humans.

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Year:  1975        PMID: 1124765      PMCID: PMC1762757     

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


  12 in total

1.  Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates.

Authors:  U Francke; B Bakay; W L Nyhan
Journal:  J Pediatr       Date:  1973-03       Impact factor: 4.406

2.  Family studies of a Lesch-Nyhan patient from an isolated Canadian community.

Authors:  K Itiaba; M Banfalvi; J C Crawhall; J G Mongeau
Journal:  Am J Hum Genet       Date:  1973-03       Impact factor: 11.025

3.  Development of a nonselective technique for studying 2, 6, diaminopurine resistance in an established murine cell line.

Authors:  J H Atkins; S M Gartler
Journal:  Genetics       Date:  1968-12       Impact factor: 4.562

4.  Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.

Authors:  J Salzmann; R DeMars; P Benke
Journal:  Proc Natl Acad Sci U S A       Date:  1968-06       Impact factor: 11.205

5.  The detection of increased mutation rates in human populations.

Authors:  J V Neel
Journal:  Perspect Biol Med       Date:  1971       Impact factor: 1.416

6.  X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

Authors:  B R Migeon; V M Der Kaloustian; W L Nyhan; W J Yough; B Childs
Journal:  Science       Date:  1968-04-26       Impact factor: 47.728

7.  Mortality in the children of atomic bomb survivors and controls.

Authors:  J V Neel; H Kato; W J Schull
Journal:  Genetics       Date:  1974-02       Impact factor: 4.562

8.  Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles.

Authors:  S M Gartler; R C Scott; J L Goldstein; B Campbell
Journal:  Science       Date:  1971-05-07       Impact factor: 47.728

9.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

10.  Expression of two X-linked genes in human hair follicles of double heterozygotes.

Authors:  J L Goldstein; J F Marks; S M Gartler
Journal:  Proc Natl Acad Sci U S A       Date:  1971-07       Impact factor: 11.205

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  12 in total

1.  Letter: Half chromatid mutations may explain incontinentia pigmenti in males.

Authors:  W Lenz
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

2.  Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

Authors:  T Grimm; B Müller; C R Müller; M Janka
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

3.  Letter: Heterogenic monozygocity: evidence for the transmission of half chromatid mutations in humans?

Authors:  J M Cantu
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

Review 4.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

5.  Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia.

Authors:  R W Hendriks; E J Mensink; M E Kraakman; A Thompson; R K Schuurman
Journal:  Hum Genet       Date:  1989-10       Impact factor: 4.132

Review 6.  Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Authors:  S J Landy; D Donnai
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

7.  The influence of half-chromatid mutations on the ratio of new mutations in lethal X-linked recessive disorders.

Authors:  T Grimm
Journal:  Am J Hum Genet       Date:  1982-01       Impact factor: 11.025

8.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

Authors:  S A Taylor; K V Deugau; D P Lillicrap
Journal:  Proc Natl Acad Sci U S A       Date:  1991-01-01       Impact factor: 11.205

10.  Gonadal mosaicism for incontinentia pigmenti in a healthy male.

Authors:  T T Kirchman; M L Levy; R A Lewis; M H Kanzler; D L Nelson; A E Scheuerle
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

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