Inheritance of pericentric inversion in chromosome 7 through the three progenies and a newborn with congenital hydronephrosis diagnosed prenatally by fetal urine sampling

Demırhan, Osman; Özcan, Kenan; Taştemir, Deniz; Demir, Cansun; Tunç, Erdal; Solgun, Huseyin Avni; Güzel, Ali İrfan

doi:10.1016/j.fertnstert.2007.02.030

Cited by 2 publications

(3 citation statements)

References 22 publications

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“…Indeed, such a karyotype with Inv(7)p22;q22 pericentric inversion, found in three members of a family, did not cause SHFM [49]; note that DLX5 is located at q21.3. It is worth pointing out that both of these inversions discussed here have one of their breakpoints located at p22 but only one of them caused SHFM.…”

Section: Results Of a Larger Inversion Encompassing Both Centromere Amentioning

confidence: 99%

“…Following a literature search we indeed found a subject containing inv(7)(q21.1;q36.3) paracentric inversion associated with all malformed limbs [51]. [49]; note that DLX5 is located at q21.3. It is worth pointing out that both of these inversions discussed here have one of their breakpoints located at p22 but only one of them caused SHFM.…”

Section: A Dlx5-region Inversion Supports the Ssis Mechanism For Limb Developmentmentioning

confidence: 94%

“…Familial rearrangements involving Chr. 7 have been reported very infrequently [49]. SSIS proposes that the orientation of the centromere with respect to the DLX5 locus in the chromosome is a key component of the mechanism and that the mechanism operates simultaneously on the two Chr.…”

Section: The Pericentric Chr 7 Inversion Aetiology Supports the Ssis Mechanism For Limb Developmentmentioning

confidence: 99%

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Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development

Klar¹

2016

Phil. Trans. R. Soc. B

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Genetic aberrations of several unlinked loci cause human congenital split hand/foot malformation (SHFM) development. Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous chromosomal aberrations of the region without mutating the DLX5 gene. To resolve this paradox, we invoke a chromosomal epigenetic mechanism for limb development. It is composed of a monochromatid gene expression phenomenon that we discovered in two fission yeasts with the selective chromosome copy segregation phenomenon that we discovered in mouse cells. Accordingly, one daughter cell inherits both expressed DLX5 copies while the other daughter inherits both epigenetically silenced ones from a single deterministic cell of the developing limb. Thus, differentiated daughter cells after further proliferation will correspondingly produce proximal/distal-limb tissues. Published results of a Chr. 7 translocation with a centromere-proximal breakpoint situated over 41 million bases away from the DLX locus, centromeric and DLX5-region inversions have satisfied key genetic and developmental biology predictions of the mechanism. Further genetic tests of the mechanism are proposed. We propose that the DNA double helical structure itself causes the development of sister cells' gene regulation asymmetry. We also argue against the conventionally invoked morphogen model of development.This article is part of the themed issue ‘Provocative questions in left–right asymmetry’.

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Section: Results Of a Larger Inversion Encompassing Both Centromere Amentioning

confidence: 99%

Section: A Dlx5-region Inversion Supports the Ssis Mechanism For Limb Developmentmentioning

confidence: 94%

Section: The Pericentric Chr 7 Inversion Aetiology Supports the Ssis Mechanism For Limb Developmentmentioning

confidence: 99%

See 1 more Smart Citation

Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development

Klar¹

2016

Phil. Trans. R. Soc. B

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Cervicovaginal anastomosis by Gore-Tex in Mullerian agenesis

Rezaei

Omidvar

Shirin

et al. 2014

Arch Gynecol Obstet

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Inheritance of pericentric inversion in chromosome 7 through the three progenies and a newborn with congenital hydronephrosis diagnosed prenatally by fetal urine sampling

Cited by 2 publications

References 22 publications

Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development

Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development

Cervicovaginal anastomosis by Gore-Tex in Mullerian agenesis

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