Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

Voss, R.; Ben-Simon, E; Avital, A; Godfrey, Stephanie S.; Zlotogora, Joël; Dagan, Judith; Tikochinski, Yaron; Hillel, J.

doi:10.1016/0168-9525(89)90184-4

Cited by 123 publications

(104 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…[1][2][3] More recently, approximately 10% of cases of Silver-Russell syndrome (SRS) have also been found to be associated with mUPD7. 4,5 SRS is characterised by intrauterine and postnatal growth retardation with relative sparing of cranial growth, triangular facies and downturned corners of the mouth.…”

Section: Introductionmentioning

confidence: 99%

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

et al. 1998

View full text Add to dashboard Cite

Maternal uniparental disomy of chromosome 7 (mUPD7) has been reported in around 10% of cases of Silver-Russell syndrome (SRS). This suggests that at least one gene on chromosome 7 is imprinted and involved in the pathogenesis of this condition. One candidate is epidermal growth factor receptor (EGFR) which maps to chromosome 7p12, a region homologous to an imprinted region on mouse chromosome 11. Using a restriction fragment length polymorphism, biallelic expression of EGFR was found in a range of normal human fetal tissues. Expression was also demonstrated in fibroblasts and lymphoblasts from SRS patients with mUPD7. Thus no evidence that EGFR is imprinted was found, making its involvement in SRS unlikely. However, EGFR was shown to be widely expressed in the human fetus, evidence that this gene plays an important role in early development.

show abstract

Section: Introductionmentioning

confidence: 99%

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

et al. 1998

View full text Add to dashboard Cite

show abstract

“…First, there is strong evidence for the existence of at least one maternally imprinted gene on the long arm of chromo some 7 th at controls intrauterine and postnatal growth. M aternal UPD for human chromosome 7 was found in 3 patients of short stature (Spence et al, 1989;Voss et al, 1989;Spotila et al, 1992), and mUPD for the long arm of chromosome 7 and pUPD7 for the short arm were found in 1 patient with short stature (Eggerding et al, 1994). In addition, a sytematic study of pa tients with either Silver-Russell syndrome or primor dial growth retardation revealed mUPD7 in 4 of the 35 patients investigated (Kotzot et a l 1995).…”

Section: Discussionmentioning

confidence: 99%

Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses

Riesewijk

Schulz

et al. 1997

Genomics

View full text Add to dashboard Cite

We h ave iso la ted th e hum an PEG U M EST gene and have in v estig a ted its im p rin tin g sta tu s and parentalspecific m eth ylation . FISH m apping assign ed th e gene to chrom osom e 7q32, an d h om ologou s sequences w ere id en tified on th e sh ort arm o f hum an chrom osom es 3 and 5. T hrough th e u se o f a n ew ly id en tified in tragen ic polymorphism, exp ression analysis revealed that PEGU M E ST is m o n o a llelica lly tran scrib ed in all feta l tissu es exam ined. In tw o in form ative cases, exp ression w as show n to b e confined to th e p a tern a lly derived allele. In con trast to th e m on oallelic ex p ressio n observed in fetal tissu es, b ia llelic ex p ressio n w as evid en t in adult blood lym phocytes. B ia lle lic ex p ressio n in blood is supported by th e d em on stration of PEG1IM EST tran scripts in a lym p h ob lastoid cell lin e w ith m aternal u n i parental disom y 7. The hum an PEG U M EST gen e spans a genom ic region o f ap p roxim ately 13 kb. Sequence analysis o f th e 5' reg io n o f P E G 1/M EST revealed the existen ce o f a 620-bp-long CpG isla n d that exten d s from th e p u ta tiv e p rom oter reg io n in to in tron 1. We dem onstrate th at th is CpG isla n d is m eth ylated in a parent-of-origin-specific m anner. A ll M sp V H p a ll sites w ere unm ethyl ate d on th e a ctiv e patern al a llele but m ethylated on th e in a c tiv e m aternal one.

show abstract

“…A partial trisomy effect of the small marker is rather unlikely, due to the results obtained by FISH and microsatellites described above. A phenotypic effect of maternal UPD 20 on prenatal and postnatal growth is not unlikely, taking into account data from the literature where several cases with maternal UPD and growth retardation have been reported, such as for chromosome 7 [21][22][23][24] and chromosome 16. 25,26 Maternal UPD for chromosome 16 was also detected in cases in which a trisomy 16 placental karyotype was identified in chorionic villi during prenatal diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Maternal UPD 20 in a hyperactive child with severe growth retardation

et al. 1999

View full text Add to dashboard Cite

Maternal uniparental disomy was observed in a 4-year-old boy with severe pre-and postnatal growth retardation (body height: 85 cm = 12 cm < third percentile, head circumference: 48 cm = 10 cm < third percentile), a few minor facial findings, and with apparent hyperactivity. His intelligence is within the normal range for his age. Karyotype analysis revealed two cell lines, one apparently normal with 46,XY, the other with a tiny marker (47,XY, + mar).Microdissection and reverse chromosome painting using the marker DNA library as a probe, as well as PCR analysis revealed that the marker is from chromosome 20 and contains only the centromere and pericentromeric segments, but none of the pericentromeric loci for microsatellites. Microsatellite analysis of 25 chromosome 20 loci disclosed maternal uniparental disomy for all 16 informative markers. Maternal heterodisomy was evident for seven loci of the short arm segment 20p11.2-pter. Maternal isodisomy was found at five loci, three of them map to the proximal 20p11.2 segment and two to 20q. To our knowledge, this is the first case of maternal disomy 20 in humans.

show abstract

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

Cited by 123 publications

References 19 publications

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses

Maternal UPD 20 in a hyperactive child with severe growth retardation

Contact Info

Product

Resources

About