Recurrent Biparental Hydatidiform Mole: Additional Evidence for a 1.1-Mb Locus in 19q13.4 and Candidate Gene Analysis

Panichkul, Prisana C.; Al-Hussaini, Tarek K.; Sierra, Rebecca; Kashork, Catherine D.; Popek, Edwina J.; Stockton, David W.; Veyver, Ignatia B. Van den

doi:10.1016/j.jsgi.2005.02.011

Cited by 25 publications

(20 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Another locus that maps to the equivalent region in humans, 19q13.4, also affects placental growth (Panichkul et al 2005). This locus influences susceptibility to biparental complete hydatidiform moles (BiCHM), which are characterized by the presence of hyperplastic trophoblast villi and lack of a fetus.…”

Section: Resultsmentioning

confidence: 99%

Mapping and identification of candidate loci responsible for Peromyscus hybrid overgrowth

et al. 2007

View full text Add to dashboard Cite

Crosses between two recently diverged rodent species of the genus Peromyscus result in dramatic parent-of-origin effects on growth and development. P. maniculatus females crossed with P. polionotus males yield growth-retarded conceptuses, whereas the reciprocal cross results in overgrowth and lethality. These hybrid effects are particularly pronounced in the placenta. We previously detected linkage to two regions of the genome involved in the overgrowth effects. One locus, termed Peal, is a paternally expressed autosomal locus mapping to a domain whose house mouse equivalent contains several clusters of imprinted genes. The other locus, termed Mexl, maps to a gene-poor region of the X chromosome. Here we use an advanced intercross line to verify and narrow the regions of linkage and identify candidate genes for Mexl and Peal. While we have previously shown that Mexl affects both preand postnatal growth, we show here that Peal affects only prenatal growth. Utilizing criteria such as mutant phenotypes and allelic expression, we identify the loci encoding the homeobox protein Esx1 and the zinc-finger protein Pw1/Peg3 as candidates. Both loci exhibit expression changes in the hybrids.

show abstract

Section: Resultsmentioning

confidence: 99%

Mapping and identification of candidate loci responsible for Peromyscus hybrid overgrowth

et al. 2007

View full text Add to dashboard Cite

show abstract

“…To date, the parental contribution to approximately 70 HM tissues from patients with two defective alleles in NLRP7 have been characterized and all of them were found to be diploid biparental (55, 62, 63, 87, 98–100) with the exception of one tissue that was digynic (101). However, this is not the case for HM tissues from patients with single heterozygous rare NLRP7 variants.…”

Section: Genotype Of Hm Tissues In Patients With Nlrp7 Mutationsmentioning

confidence: 99%

NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges

Slim

Wallace

2013

Front. Immunol.

View full text Add to dashboard Cite

NOD-like receptor proteins (NLRPs) are emerging key players in several inflammatory pathways in Mammals. The first identified gene coding for a protein from this family is Nlrp5 and was originally called Mater for “Maternal Antigen That Mouse Embryos Require” for normal development beyond the two-cell stage. This important discovery was followed by the identification of other NLRPs playing roles in inflammatory disorders and of the first maternal-effect gene in humans, NLRP7, which is responsible for an aberrant form of human pregnancy called hydatidiform mole (HM). In this review, we recapitulate the various aspects of the pathology of HM, highlight recent advances regarding NLRP7 and its role in HM and related forms of reproductive losses, and expand our discussion to other NLRPs with a special emphasis on those with known roles in mammalian reproduction. Our aim is to facilitate the genetic complexity of recurrent fetal loss in humans and encourage interdisciplinary collaborations in the fields of NLRPs and reproductive loss.

show abstract

“…In nearly all hydatidiform moles the maternal chromosomes have been physically lost; but rare examples of 'biparental' moles that retain the maternal genome have been described (Sunde et al, 1993;Helwani et al, 1999;Sensi et al, 2000;Panichkul et al, 2005). In these tumors there is nonetheless markedly reduced expression of paternally imprinted/ maternally expressed genes, suggesting that the androgenetic gene expression state in these variant cases has been arrived at by failure of maternal imprinting, and that this state is truly essential for tumor formation (Fisher et al, 2002;ElMaarri et al, 2003).…”

Section: Imprinted Genes In Placental Neoplasiamentioning

confidence: 99%

Imprinted genes in placental growth and obstetric disorders

Tycko¹

2006

Cytogenet Genome Res

View full text Add to dashboard Cite

Genomic imprinting has a special role in placental biology. Imprinted genes are often strongly expressed in the placenta, and the allelic expression bias due to imprinting is sometimes stronger in this extraembryonic organ than in the embryo and adult. Mutations, epimutations, and uniparental disomies affecting imprinted loci cause placental stunting or overgrowth in mice and humans, and placental neoplasms (complete hydatidiform moles) are androgenetic. Whether imprinted genes might also play a role in the more common medical conditions that affect the placenta, including preeclampsia and intrauterine growth restriction (IUGR), is an important question that is now receiving some attention. Here we review this area and describe recent data indicating altered expression of imprinted genes in the placental response to maternal vascular underperfusion associated with IUGR.

show abstract

Recurrent Biparental Hydatidiform Mole: Additional Evidence for a 1.1-Mb Locus in 19q13.4 and Candidate Gene Analysis

Abstract: The reported candidate region for BiCHM in 19q13.4 was confirmed in additional families, further establishing it as the major locus that harbors a gene mutated in this condition.

Cited by 25 publications

References 38 publications

Mapping and identification of candidate loci responsible for Peromyscus hybrid overgrowth

Mapping and identification of candidate loci responsible for Peromyscus hybrid overgrowth

NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges

Imprinted genes in placental growth and obstetric disorders

Contact Info

Product

Resources

About