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13 records found


Taxon: Human

Chromosome: 10

Location:

Gene: "UPD"

Description: Maternal UPD has been reported but parent-of-origin effects are considered unlikely (Ledbetter DH et al. 1995; Hurst LD et al. 1997).
A fatal case of familial haemophagocytic lymphohistiocytosis due to maternal UPD of chromosome 10 has been reported (Al-Jasmi F et al 2008).
Maternal UPD of chromosome 10 was reported to be the cause of a mitochondrial DNA depletion syndrome in a Portuguese child. The proband inherited two mutated C10orf2 alleles. C10orf2 codes for a mitochondrial helicase called Twinkle (Nogueira C et al 2013).
A child born with multiple clinical manifestations (bilateral deafness, binocular blindness, mild cleft palate, orbital hypertelorism, patchy skin depigmentation and muscular hypotonia) was found to have maternal UPD of chromosome 10. No single candidate gene was able to explain this complex range of problems (Li N et al 2016).
A case of a fetus with maternal UPD, mosaic for an additional chromsome derived from 10p (partial trisomy) revealed hypoplasia of the heart, liver, kidneys and suprarenal glands (Schlegel M et al. 2002).

A child presymptomatic for multiple endocrine neoplasia type 2A was found to have partial paternal UPD of chromosome 10 (Kousseff BG et al 1992, Am J Hum Genet. 1992; 51(Suppl): pg. A219 (abstract no. 863)).

Category: Disomy (UPD)

Record:23 Last Modified 1/20/2017

Taxon: Human

Chromosome: 10

Location: 10p11-q11

Gene: IDDM10

Description: IDDM10 showed allele sharing predominantly from one parent (maternal origin effect) in families with Type 1 diabetes (Paterson AD et al, 1999).

Category: Parental effect

Record:159 Last Modified 4/27/2010

Taxon: Human

Chromosome: 10

Location: 10p11.2

Gene: Alcoholism

Description: Using the COGA dataset released for the Genetic Analysis Workshop 14, a possible maternal linkage effect for alcoholism was detected at 57.7 - 62.5 cM (Liu X-Q et al, 2005), and at 61 - 63 cM (Strauch K et al, 2005). .

Category: Parental effect

Links: Record:1024 Last Modified 7/2/2006

Taxon: Human

Chromosome: 10

Location: 10p12, 52-61 cM

Gene: Obesity, BMI

Description: A genome-wide parent-of-origin linkage study for obesity (BMI, body mass index, waist circumference) was carried out in European American (1,297 individuals from 260 families), German (370 from 89 families) and African American (277 from 52 families) samples . A maternal effect was observed for 10p12 across all three sample groups with LOD scores of 5.69 (single-point) and 4.52 (multipoint) (Dong C et al, 2005).

Category: Parental effect

Links: Record:1009 Last Modified 6/18/2007

Taxon: Human

Chromosome: 10

Location: 10p14; 7.2 Mb

Gene: SFMBT2

Description: SFMBT2 (Scm-like with four mbt domains 2) is biallelically expressed in human, in contrast to its imprinted expression in mice and rats (Wang Q et al. 2011).
Baran Y et al (2015) found no evidence of imprinting of SFMBT2 in multiple adult tissues (using RNA-seq).
Imprinting on rodents may be associated with to a large block of miRNA in rodent intron 10 which is absent in human, bovine and Peromyscus.

Category: Other

Links: Gene   Record:1369 Last Modified 8/3/2017

Taxon: Human

Chromosome: 10

Location: 10p15; 6.0 - 19.7 cM

Gene: Body mass index (BMI), obesity

Description: In a genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of body mass index (kg/m2) in Pima Indians, a region on chromosome 10 showed evidence of linkage to paternal alleles (LOD = 1.7) but not maternal (LOD = 0) (Lindsay RS et al. 2001).

Category: Parental effect

Links: Record:451 Last Modified 1/13/2014

Taxon: Human

Chromosome: 10

Location: 10q11-21; 65-80 cM

Gene: Alzheimer disease

Description: A study from a sample of 148 sibships with late onset AD found maternal linkage to a region on chromosome 10 with a maximum Z-score of 3.88 (LOD = 3.27) at D10S1220 (Bassett et al. 2002).
The maternal effect was confirmed in an independent set of pedigrees (Bassett SS et al, 2006).
ASAH2B (ASAH2L) has been proposed as a candidate gene (Avramopoulos D et al, 2007).

Category: Parental effect

Links: Gene   Record:486 Last Modified 1/13/2014

Taxon: Human

Chromosome: 10

Location: 10q11.2

Gene: RET or other modifier gene

Description: Familial Hirschsprung disease. Affected patients with familial Hirschsprung disease were more likely to inherit the mutant RET protooncogene (10q11.2) from their mothers (Peretz H et al, 1997).

Category: Parental effect

Record:62 Last Modified 31/08/2005

Taxon: Human

Chromosome: 10

Location: 10q21.3

Gene: CTNNA3

Description: CTNNA3 (catenin (cadherin-associated protein), alpha 3) was reported to show polymorphic imprinting. It showed monoallelic expression in ONE of three placental samples (8-12 weeks gestation); the other two showed equal biallelic expression. Immunostaining of a partial hydatidiform mole showed absence of expression in villous trophoblast of villi with hydropic changes (the presumed androgenetic villi), whereas expression was detected in non-hydropic villi of normal origin (van Dijk M et al, 2004). CTNNA3 was studied since it was a candidate for the parent-of-origin effect in familial pre-eclampsia, but subsequent studies have excluded CTNNA3 from the minimal critical region (van Dijk M et al, 2005).
Meehan M et al (2007) reported biallelic expression in normal urothelial samples.
In mice, allele-specific expression studies showed biallelic expression in mouse fetal and placental tissues (Inglesias-Platas I et al, 2007).
In view of negative reports, the evidence from a single sample is no longer sufficient to sustain a claim of polymorphic imprinting (IMM - comment).

Category: Other

Links: Gene   Record:638 Last Modified 4/4/2008

Taxon: Human

Chromosome: 10

Location: 10q22

Gene: pre-eclampsia susceptibility

Description: Sib-pair analysis of 24 families with pre-eclampsia indicated linkage to 10q22.1, with haplotype analysis revealing maximum allele sharing between affected siblings for maternally derived alleles only. A region between markers GATA121A08 and D10S580 was screened in silico for common imprinting hallmarks, which directed the search for down-regulated transcripts in androgenetic placentas. Two clusters near markers CTNNA3 and KCNMAI each contained five genes with down-regulated expression in androgenic placentas, consistent with the regions demonstrating maximal maternal allele sharing (Oudejans CB et al, 2004).

Category: Parental effect

Links: Record:606 Last Modified 2/27/2007

Taxon: Human

Chromosome: 10

Location: 10q22

Gene: STOX1

Description: In a commentary on van Dijk M et al. (2005) it was suggested that STOX1 might be imprinted (Arngrimsson R, 2005), but allelic expression studies showed no evidence for imprinting of STOX1 in human or mouse fetal and placental tissues (Inglesias-Platas I et al, 2007).

Category: Other

Links: Gene   Record:1118 Last Modified 9/10/2007

Taxon: Human

Chromosome: 10

Location: 10q26

Gene: Differentially methylated region

Description: This region contains a CpG island that is differentially methylated in hydatidiform moles (paternal origin) and complete ovarian teratomas (maternal origin) (Strichman-Almashanu LZ et al, 2002).

Category: DMR or ICR

Record:308 Last Modified 3/12/2015

Taxon: Human

Chromosome: 10

Location: 10q26.11

Gene: INPP5F (INPP5F_V2)

Description: Isoform 2 of INPP5F (INPP5F_V2; inositol polyphosphate-5-phosphatase F, isoform 2) was exclusively expressed from the paternal allele in fetal brain, heart and tongue in one informative fetus, and monoallelically expressed in two additional fetuses (same tissues). Its promoter shows germline maternal methylation (Wood AJ et al, 2007). Mouse Inpp5f_v2 is also imprinted and paternally expressed.
INPP5F_V2 is a retrogene derived from the X chromosome gene TMEM114A. Isoform 2 probably does not encode a protein.
INPP5F_V2 is present in all eutherian mammals but is absent from the opossum genome.
Morcos L et al (2011) found no evidence of allelic expression bias in lymphoblast and fibroblast cell lines.

Category: Imprinted genes

Links: Gene   Record:1081 Last Modified 10/18/2015

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