Patterns of X-linked inheritance: a new approach for the genome era.

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Tác giả: Sanjana Basava, Leslie G Biesecker, Charles J Billington, Laura Carrel, William B Dobyns

Ngôn ngữ: eng

Ký hiệu phân loại: 343.0532 Military, defense, public property, public finance, tax, commerce (trade), industrial law

Thông tin xuất bản: United States : Genetics in medicine : official journal of the American College of Medical Genetics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 186394

The concepts of X-linked (XL) "dominant" and "recessive" inheritance originated long before dosage compensation for X chromosome genes was understood, but now have no scientific basis. To address continuing misunderstanding of XL inheritance in humans we reviewed data on penetrance, expressivity, and X chromosome inactivation for 55 XL genes and 57 XL disorders. Our analysis demonstrated widely varying penetrance in heterozygous females and variations in the patterns of inheritance based on the degree of cell selection, severity of the phenotype in males, cell autonomous or non-cell autonomous function of the gene product, and other factors. We propose four new groups of XL disorders with variations in the pattern of inheritance and recommend that the biologically flawed concepts of XL "dominant" and "recessive" inheritance for humans and other therian mammals be retired.
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