Unknown

Dataset Information

0

A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.


ABSTRACT: Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both chromosomes from only the mother, is observed in approximately 10% of patients with Silver-Russell syndrome (SRS). It has been suggested that at least one imprinted gene that regulates growth and development resides on human chromosome 7. To date, three imprinted genes-PEG1/MEST, gamma2-COP, and GRB10-have been identified on chromosome 7, but their role in the etiology of SRS remains uncertain. In a systematic screening with microsatellite markers, for matUPD7 cases among patients with SRS, we identified a patient who had a small segment of matUPD7 and biparental inheritance of the remainder of chromosome 7. Such a pattern may be explained by somatic recombination in the zygote. The matUPD7 segment at 7q31-qter extends for 35 Mb and includes the imprinted gene cluster of PEG1/MEST and gamma2-COP at 7q32. GRB10 at 7p11.2-p12 is located within a region of biparental inheritance. Although partial UPD has previously been reported for chromosomes 6, 11, 14, and 15, this is the first report of a patient with SRS who has segmental matUPD7. Our findings delimit a candidate imprinted region sufficient to cause SRS.

SUBMITTER: Hannula K 

PROVIDER: S-EPMC1234921 | biostudies-literature | 2001 Jan

REPOSITORIES: biostudies-literature

altmetric image

Publications

A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.

Hannula K K   Lipsanen-Nyman M M   Kontiokari T T   Kere J J  

American journal of human genetics 20001208 1


Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both chromosomes from only the mother, is observed in approximately 10% of patients with Silver-Russell syndrome (SRS). It has been suggested that at least one imprinted gene that regulates growth and development resides on human chromosome 7. To date, three imprinted genes-PEG1/MEST, gamma2-COP, and GRB10-have been identified on chromosome 7, but their role in the etiology of SRS remains uncertain. In a systematic screeni  ...[more]

Similar Datasets

| S-EPMC6592828 | biostudies-literature
| S-EPMC9468177 | biostudies-literature
| S-EPMC3657309 | biostudies-literature
| S-EPMC3533142 | biostudies-literature
| S-EPMC4787016 | biostudies-literature
| S-EPMC8073552 | biostudies-literature
| S-EPMC4729106 | biostudies-literature
| S-EPMC3382553 | biostudies-other
| S-EPMC2853554 | biostudies-literature
| S-EPMC5593155 | biostudies-literature