In:
Twin Research and Human Genetics, Cambridge University Press (CUP), Vol. 21, No. 5 ( 2018-10), p. 361-368
Abstract:
Familial monozygotic (MZ) twinning reports are rare around the world, and we report a four-generation pedigree with seven recorded pairs of female MZ twins. Whole-genome sequencing of seven family members was performed to explore the featured genetic factors in MZ twins. For variations specific to MZ twins, five novel variants were observed in the X chromosome. These candidates were used to explain the seemingly X-linked dominant inheritance pattern, and only one variant was exonic, located at the 5′UTR region of ZCCHC12 (chrX: 117958597, G 〉 A). Besides, consistent mitochondrial DNA composition in the maternal linage precluded roles of mitochondria for this trait. In this pedigree, autosomes also contain diverse variations specific to MZ twins. Pathway analysis revealed a significant enrichment of genes carrying novel SNVs in the epithelial adherens junction-signaling pathway ( p = .011), contributed by FGFR1 , TUBB6 , and MYH7B . Meanwhile, TBC1D22A , TRIOBP , and TUBB6 , also carrying similar SNVs, were involved in the GTPase family-mediated signal pathway. Furthermore, gene-set enrichment analysis for 533 genes covered by copy number variations specific to MZ twins illustrated that the tight junction-signaling pathway was significantly enriched ( p 〈 .001). Therefore, the novel changes in the X chromosome and the provided candidate variants across autosomes may be responsible for MZ twinning, giving clues to increase our understanding about the underlying mechanism.
Type of Medium:
Online Resource
ISSN:
1832-4274
,
1839-2628
Language:
English
Publisher:
Cambridge University Press (CUP)
Publication Date:
2018
detail.hit.zdb_id:
2184274-7
SSG:
12
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