Cytologic evidence for three human X-chromosomal segments escaping inactivation

Schempp, Werner; Meer, Barbara

doi:10.1007/bf00291539

Cited by 103 publications

(40 citation statements)

References 27 publications

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“…Filters were washed with 2 X SSC/0.1%SDS, 1 X SSC/0.1%SDS, 0.1 X SSC/0.1%SDS 10 min each at 65 8C and autoradiographed at K70 8C for 2-5 days. Chromosome preparations were made from peripheral blood according to standard methods with minor modifications (Schempp & Meer 1983). Chromosome FISH was performed as previously described with minor modifications (Wilcox et al 1996).…”

Section: Bac Library Screening and Chromosomal Mappingmentioning

confidence: 99%

A-kinase anchoring protein 4 has a conserved role in mammalian spermatogenesis

Pask

et al. 2009

Reproduction

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A-kinase anchor protein 4 (AKAP4) is an X-linked member of the AKAP family of scaffold proteins that anchor cAMP-dependent protein kinases and play an essential role in fibrous sheath assembly during spermatogenesis and flagellar function in spermatozoa. Marsupial spermatozoa differ in structural organization from those of eutherian mammals but data on the molecular control of their structure and function are limited. We therefore cloned and characterized the AKAP4 gene in a marsupial, the tammar wallaby (Macropus eugenii). The gene structure, sequence, and predicted protein of AKAP4 were highly conserved with that of eutherian orthologues and it mapped to the marsupial X-chromosome. There was no AKAP4 expression detected in the developing young. In the adult, AKAP4 expression was limited to the testis with a major transcript of 2.9 kb. AKAP4 mRNA was expressed in the cytoplasm of round and elongated spermatids while its protein was found on the principal piece of the flagellum in the sperm tail. This is consistent with its expression in other mammals. Thus, AKAP4 appears to have a conserved role in spermatogenesis for at least the last 166 million years of mammalian evolution. Reproduction (2009) 137 645-653

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Section: Bac Library Screening and Chromosomal Mappingmentioning

confidence: 99%

A-kinase anchoring protein 4 has a conserved role in mammalian spermatogenesis

Pask

et al. 2009

Reproduction

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“…Cytological Methods. Air-dried chromosome preparations were made from peripheral blood according to standard methods with minor modifications (36).…”

Section: Reverse Transcription-pcr (Rt-pcr)mentioning

confidence: 99%

The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination

Pask

Renfree

Graves

2000

Proc. Natl. Acad. Sci. U.S.A.

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Mutations in the ATRX gene on the human X chromosome cause X-linked ␣-thalassemia and mental retardation. XY patients with deletions or mutations in this gene display varying degrees of sex reversal, implicating ATRX in the development of the human testis. To explore further the role of ATRX in mammalian sex differentiation, the homologous gene was cloned and characterized in a marsupial. Surprisingly, active homologues of ATRX were detected on the marsupial Y as well as the X chromosome. The Y-borne copy (ATRY) displays testis-specific expression. This, as well as the sex reversal of ATRX patients, suggests that ATRY is involved in testis development in marsupials and may represent an ancestral testisdetermining mechanism that predated the evolution of SRY as the primary mammalian male sex-determining gene. There is no evidence for a Y-borne ATRX homologue in mouse or human, implying that this gene has been lost in eutherians and its role supplanted by the evolution of SRY from SOX3 as the dominant determiner of male differentiation.

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“…However, X chromosome inactivation is a complicated subject. For example, del(X)(p21) is a region of early replication on the inactivated X chromosome and involves some genes which may escape inactivation (29). It has been suggested that complete pairing of X chromosomes may be essential for the survival of oocytes and for the development of ovaries (21,30).…”

Section: Discussionmentioning

confidence: 99%

Transmission of Del(X)(p11.2) from Mother to Daughter.

Ogawa¹,

Kamijo

Asai

et al. 2002

Clin Pediatr Endocrinol

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Abstract. We report here a girl (the proband) and her mother with del(X)(p11.2) showing few somatic stigmata of the typical Turner syndrome. The proband exhibited short stature, cubitus valgus, short 4th metacarpal, multiple pigmented nevi and epicanthal fold, while her mother exhibited short stature, cubitus valgus, and short 4th metacarpal. Pubertal changes occurred in both of them. The mother had menarche at 12 years and menopause at 37 years 7 months, indicating premature ovarian failure. The grandmother of the proband had cubitus valgus but normal karyotype. There were many patients with thyroid disease on both their paternal and maternal sides. The proband and her mother had overt hypothyroidism, compensated hypothyroidism, and euthyrodism respectively, though all of them showed positive antithyroid antibodies. In Turner patients with del(Xp), there are many important issues, including determination of the loci of some genes on the X chromosome and genetic counseling.

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Cytologic evidence for three human X-chromosomal segments escaping inactivation

Cited by 103 publications

References 27 publications

A-kinase anchoring protein 4 has a conserved role in mammalian spermatogenesis

A-kinase anchoring protein 4 has a conserved role in mammalian spermatogenesis

The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination

Transmission of Del(X)(p11.2) from Mother to Daughter.

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